| Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Post-partum hemorrhage, Impaired ADP-induced platelet aggregatio... |
OMIM:619130 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Essential Thrombocythemia |
|
Myelodysplasia, Abnormality of bone marrow cell morphology, Myelofibrosis, Increased megakaryocyt... |
ORPHA:3318 |
| Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal h... |
ORPHA:231393 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... |
OMIM:619271 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Leukopenia, Refractory anemia, B... |
OMIM:231095 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
| Platelet Signal Processing Defect |
|
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... |
OMIM:173590 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Abnormal bleeding, Macrothrombocytopenia, Thrombocytopenia, Petech... |
OMIM:187800 |
| Glanzmann Thrombasthenia 2 |
|
Prolonged bleeding after surgery, Prolonged bleeding time, Impaired epinephrine-induced platelet ... |
OMIM:619267 |
| Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... |
OMIM:187950 |
| Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Myelofibrosis, Bone marrow hypercellularity, Abnormality of bone marrow stromal ce... |
ORPHA:86843 |
| Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
| Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
| +173470 integrin, beta-3 |
|
Impaired platelet aggregation, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracran... |
OMIM:173470 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Bernard-Soulier Syndrome |
|
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... |
OMIM:231200 |
| Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... |
OMIM:209050 |
| Thrombocytopenia 2 |
|
Thrombocytopenia |
OMIM:188000 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Macrothrombocytopenia and progressive sensorineural deafness |
|
Abnormal bleeding, Prolonged bleeding time, Macrothrombocytopenia, Thrombocytopenia, Giant platel... |
OMIM:600208 |
| Thrombocytopenia 6 |
|
Thrombocytopenia, Bone marrow hypercellularity, Myelofibrosis, Osteoporosis |
OMIM:616937 |
| Gray Platelet Syndrome |
|
Myelofibrosis, Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation,... |
OMIM:139090 |
| Sebastian syndrome |
|
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets |
OMIM:605249 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Thrombocytopenia, Osteopenia, Hepatosplenomegaly, Anemia |
OMIM:610539 |
| Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... |
OMIM:615285 |
| Platelet Disorder, Undefined |
|
Thrombocytopenia, Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time |
OMIM:173420 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Glanzmann Thrombasthenia 1 |
|
Impaired platelet aggregation, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Int... |
OMIM:273800 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Abnormal bleeding, Persistent bleeding after trauma, Prolonged ble... |
OMIM:277480 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... |
OMIM:202700 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:615214 |
| Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia |
OMIM:300299 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodi... |
OMIM:155100 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia |
OMIM:124900 |
| Bleeding Disorder, Platelet-Type, 8 |
|
Persistent bleeding after trauma, Abnormal bleeding, Prolonged bleeding after surgery, Impaired A... |
OMIM:609821 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Impaired platelet aggregation, Acute monocytic leukemia, Prolonged bleeding time, Abnormal alpha ... |
OMIM:601399 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... |
OMIM:619041 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Thrombocytopenia, Abnormal thrombocyte morphology, Absence of alpha granules, Myelofibrosis |
OMIM:187900 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Pancytopenia And Occlusive Vascular Disease |
|
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia |
OMIM:167850 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Petechia... |
OMIM:314050 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Impaired platelet aggregation, Prolonged bleeding time, Epistaxis |
OMIM:615888 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Myelodysplasia, Recurrent otitis media, Neutropenia, Thrombo... |
OMIM:617475 |
| Slc35A1-Cdg |
|
Abnormal megakaryocyte morphology, Pneumonia, Neutropenia, Thrombocytopenia, Giant platelets, Abn... |
ORPHA:238459 |
| Myelofibrosis |
|
Myeloproliferative disorder, Myelofibrosis, Splenomegaly |
OMIM:254450 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... |
OMIM:300835 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Abnormal bone structure |
ORPHA:46532 |
| Glanzmann Thrombasthenia |
|
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... |
ORPHA:849 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Refractory Anemia |
|
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... |
ORPHA:98826 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Radioulnar synostosis, Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Quebec Platelet Disorder |
|
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Epistaxis, Thrombocytopenia,... |
OMIM:601709 |
| Eosinophilia, Familial |
|
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia |
OMIM:131400 |
| Platelet Aggregation, Spontaneous |
|
Spontaneous platelet aggregation, Abnormal platelet function |
OMIM:173400 |
| Fechtner syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Leukocyte inclusion bodies, Menorrh... |
OMIM:153640 |
| Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia |
OMIM:615715 |
| Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Myeloid leukemia, Myelofibrosis |
OMIM:616604 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired platelet aggregation, Menorrhagia |
OMIM:617443 |
| Ataxia-Pancytopenia Syndrome |
|
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... |
ORPHA:2585 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification, Anemia |
ORPHA:3319 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Neutropenia, Anemia |
OMIM:614082 |
| Myh9-Related Disease |
|
Congenital thrombocytopenia, Increased mean platelet volume, Giant platelets, Neutrophil inclusio... |
ORPHA:182050 |
| Erythroleukemia, Familial, Susceptibility To |
|
Refractory anemia with ringed sideroblasts, Erythroid hyperplasia, Thrombocytopenia, Acute myeloi... |
OMIM:133180 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Increased megakaryocyte count, Abnormal megakaryocyte morphology, Neutropenia, Pancytopenia, Myel... |
ORPHA:75564 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time |
OMIM:188025 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
| Thrombocytopenia 5 |
|
Thrombocytopenia, Neutropenia, Anemia |
OMIM:616216 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility, Epistaxis,... |
OMIM:614009 |
| Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
| Transcobalamin Deficiency |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... |
ORPHA:859 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
| Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Fanconi Anemia, Complementation Group V |
|
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
OMIM:617243 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia |
ORPHA:231401 |
| Sitosterolemia 1 |
|
Impaired platelet aggregation, Abnormal bleeding, Episodic hemolytic anemia, Chronic hemolytic an... |
OMIM:210250 |
| Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Bruising s... |
OMIM:614075 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:613501 |
| Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Osteoporosis |
OMIM:613606 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Trimethylaminuria |
|
Neutropenia, Anemia, Splenomegaly |
OMIM:602079 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Gray Platelet Syndrome |
|
Abnormal bleeding, Epistaxis, Thrombocytopenia, Splenomegaly, Abnormal thrombocyte morphology, Br... |
ORPHA:721 |
| Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Defective T cell proliferation, Decreased proportion of CD8-positive T cells, R... |
OMIM:614493 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly |
OMIM:615085 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume |
OMIM:252270 |
| Von Willebrand Disease |
|
Abnormal thrombocyte morphology, Abnormal platelet function |
ORPHA:903 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Leukocytosis, Intracranial hemorrhage, Bruising susceptibility, Thromboc... |
ORPHA:3226 |
| Immunodeficiency 69 |
|
Skin rash, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly |
OMIM:618963 |
| Von Willebrand Disease, Type 1 |
|
Impaired platelet aggregation, Persistent bleeding after trauma, Prolonged bleeding after surgery... |
OMIM:193400 |
| Castleman Disease |
|
Abdominal mass, Myelofibrosis, Generalized lymphadenopathy, Follicular hyperplasia, Thrombocytope... |
ORPHA:160 |
| Immunodeficiency 46 |
|
Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia, Anemia |
OMIM:616740 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... |
OMIM:614470 |
| Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... |
OMIM:619374 |
| Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Chronic hepatitis, Anemia, Neutrophilia, Eczema, Cervical lymphadeno... |
ORPHA:3260 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
| Storage Pool Platelet Disease |
|
Abnormal bleeding, Decreased mean platelet volume, Prolonged bleeding time, Acute leukemia |
OMIM:185050 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation, Joint hemorrhage, Intestinal bleeding, Epistaxis, Menorrhagia, Bru... |
OMIM:605735 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Recurrent otitis media, Neutropenia, Hyposegmentation of neutrophil n... |
OMIM:169400 |
| Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
| Fanconi Anemia, Complementation Group T |
|
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Anemia |
OMIM:616435 |
| Polycythemia Vera |
|
Myelodysplasia, Myelofibrosis, Hepatomegaly, Splenomegaly, Portal hypertension, Acute leukemia |
ORPHA:729 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia |
ORPHA:517 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Skin rash, Hemophagocytosis, Neutropenia, Thrombocytopenia, Conjunctivitis, Jaundice, Hepatomegal... |
OMIM:603552 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Inflammation of the large intestine, Lymphocytosis, Decreased mean platelet volume, Thrombocytope... |
OMIM:617718 |
| Hermansky-Pudlak Syndrome 5 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Menorrhagia, Bruising su... |
OMIM:614074 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurrent otitis medi... |
ORPHA:444463 |
| Specific Granule Deficiency 1 |
|
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... |
OMIM:245480 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... |
OMIM:159550 |
| Immunodeficiency 21 |
|
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... |
OMIM:614172 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Recurrent fractures, Osteopetrosis, Thrombocytopenia, Hepatomegaly, Anemia, Sple... |
OMIM:611490 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... |
OMIM:606843 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Abnormality of multiple cell lineages in the bone marrow, Abnormal megakaryoc... |
ORPHA:67044 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Abnormality of the liver, Hepatomegaly |
ORPHA:1980 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Kaposi's sarcoma, Splenomegaly |
OMIM:615593 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly |
OMIM:153670 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Mu-Heavy Chain Disease |
|
Osteoporosis, Osteolysis, Abnormality of bone marrow cell morphology, Hepatomegaly, Abnormal B ce... |
ORPHA:100024 |
| Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia |
OMIM:612527 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Abnormality of bone marrow cell morphology, Lymphadenopathy, B-cell lymphoma |
ORPHA:52416 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Bernard-Soulier Syndrome |
|
Prolonged bleeding after surgery, Abnormal bleeding, Gastrointestinal hemorrhage, Hematemesis, Sp... |
ORPHA:274 |
| Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Neoplasm, Jaundice, Hepatomegaly, Reduced bone mineral density, Splenomegaly, Abnorm... |
ORPHA:172 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly, Chilblains |
OMIM:610329 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
T lymphocytopenia, Pneumonia, Hepatomegaly, Splenomegaly, Eczema, Otitis media, Lymphadenopathy |
OMIM:608971 |
| Hermansky-Pudlak Syndrome 7 |
|
Impaired platelet aggregation, Abnormal bleeding, Bruising susceptibility, Epistaxis |
OMIM:614076 |
| Schnitzler Syndrome |
|
Skin rash, Leukocytosis, Lymphoma, Hepatomegaly, Increased bone mineral density, Anemia, Splenome... |
ORPHA:37748 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Ecchymosis |
OMIM:614201 |
| Beta-Thalassemia |
|
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Reduced bone minera... |
ORPHA:848 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:613502 |
| Gamma-Heavy Chain Disease |
|
Skin rash, Osteolysis, Abnormality of bone marrow cell morphology, Autoimmune thrombocytopenia, A... |
ORPHA:100026 |
| Apolipoprotein A-I Deficiency |
|
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly |
ORPHA:425 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia, Splenomegaly |
ORPHA:1802 |
| Hermansky-Pudlak Syndrome 11 |
|
Epistaxis, Impaired collagen-induced platelet aggregation, Reduced platelet dense granules, Menor... |
OMIM:619172 |
| Cernunnos-Xlf Deficiency |
|
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... |
ORPHA:169079 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Idiopathic Aplastic Anemia |
|
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Bone marrow hypocellularity |
ORPHA:88 |
| Polycythemia Vera |
|
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased megakaryocyte count, Increased hemo... |
OMIM:263300 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia |
OMIM:616738 |
| Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Epistaxis, Ecchymosis, Bruising susceptibility |
OMIM:614158 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Lymphoproliferative disorder, Bronchiectasis, Autoimmune thrombocytopenia, Recurrent otitis media... |
OMIM:300853 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Chronic rhinitis due to narrow nasal airway, Extramedullary hematopoiesis, Recurrent fractures, O... |
OMIM:259710 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Ulcerative colitis, Anemia |
OMIM:619398 |
| Felty Syndrome |
|
Osteolysis, Pericarditis, Abnormal lymphocyte morphology, Chronic otitis media, Synovitis, Neutro... |
ORPHA:47612 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Recurrent sinusitis, Colitis, Thrombocytopenia, Anemia, Splenomegaly, Hepatospl... |
OMIM:613101 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Hemophagocytosis, Neutropenia, Burkitt lymphoma, Lymphoma, Pancytopenia, Thrombocy... |
OMIM:308240 |
| Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia |
OMIM:598500 |
| Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... |
ORPHA:521 |
| Primary Myelofibrosis |
|
Hemangioma, Thrombocytosis, Abnormality of bone marrow cell morphology, Bone marrow hypercellular... |
ORPHA:824 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatomegaly, Anemia, Splenomegaly, Ab... |
OMIM:612840 |
| Lymphoproliferative Syndrome 1 |
|
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased... |
OMIM:613011 |
| Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia |
ORPHA:1059 |
| Isolated Agammaglobulinemia |
|
Skin rash, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, Thrombocytopeni... |
ORPHA:229717 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Reduced natural killer cell activity, Impaired ADP-induced platelet aggr... |
OMIM:608233 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Chronic oral candidiasis, Bronchiectasis, ... |
OMIM:150550 |
| Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Bronchiectasis, Lymphopenia, Splen... |
OMIM:617514 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Erythroid hypoplasia, Myelodysplasia, Thrombocytosis, Bone marrow hypercellularity, Abnormality o... |
ORPHA:86841 |
| Aggressive Systemic Mastocytosis |
|
Increased proportion of CD25+ mast cells, Osteoporosis, Osteolysis, Leukocytosis, Maculopapular e... |
ORPHA:98850 |
| Bone Marrow Failure Syndrome 4 |
|
Thrombocytopenia, Anemia, Leukopenia, Eczema, Bone marrow hypocellularity |
OMIM:618116 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia, Joint laxity, Osteoporosis, Hepatomegaly |
OMIM:614727 |
| Indolent Systemic Mastocytosis |
|
Increased proportion of CD25+ mast cells, Skin rash, Osteoporosis, Abnormality of bone marrow cel... |
ORPHA:98848 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Osteopetrosis, Thrombocytopenia, Reduced bone mineral density, Hepatomegaly,... |
ORPHA:2785 |
| Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prol... |
OMIM:227400 |
| Non-Involuting Congenital Hemangioma |
|
Hemangioma, Midfrontal capillary hemangioma, Perineal hemangioma, Hepatic hemangioma, Thrombocyto... |
ORPHA:141179 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Ascites, Anemia |
ORPHA:295 |
| Immunodeficiency 48 |
|
Eczematoid dermatitis, Hepatomegaly, Pneumonia, Splenomegaly |
OMIM:269840 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Thrombocytopenia, Chronic neutropenia |
OMIM:619301 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
| Immunodeficiency 27A |
|
Thrombocytosis, Increased inflammatory response, Leukocytosis, Salmonella osteomyelitis, Pneumoni... |
OMIM:209950 |
| Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
| Wt Limb-Blood Syndrome |
|
Radioulnar synostosis, Joint contracture of the 5th finger, Thrombocytopenia, Hypoplastic anemia,... |
OMIM:194350 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:618495 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| 3-Methylglutaconic Aciduria, Type Vii |
|
Neutropenia |
OMIM:616271 |
| Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
| Tyrosinemia Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs, Splenomegaly |
ORPHA:882 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Recurrent otitis media,... |
OMIM:619220 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia, Euthyroid goiter, Nephritis |
ORPHA:3327 |
| Amed Syndrome, Digenic |
|
Myelodysplasia, Adrenal hypoplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia,... |
OMIM:619151 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Thrombocytopenia, Lupus nephritis, Malar rash, Leukopenia, Nephri... |
OMIM:152700 |
| Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Glomerulonephritis, Hemolytic anemia |
OMIM:615008 |
| Rapidly Involuting Congenital Hemangioma |
|
Hemangioma, Midfrontal capillary hemangioma, Perineal hemangioma, Hepatic hemangioma, Thrombocyto... |
ORPHA:141184 |
| Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Skin rash, Hemolytic anemia, Lymphopenia, Colitis, Thrombocytopenia, Anterior uveitis |
OMIM:616744 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hemophagocytosis, Colitis, Pancytopenia, Hepat... |
OMIM:300635 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Joint hemorrhage, Intermittent thrombocytopenia, Congenital throm... |
OMIM:313900 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Cystic acne, Knee flexion contracture, ... |
OMIM:604416 |
| Juvenile Arthritis |
|
Leukocytosis, Skin rash, Thrombocytosis |
OMIM:618795 |
| Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly |
OMIM:610333 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Cirrhosis, Thrombocytopenia, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity |
OMIM:613987 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Erythroderma, Pneumonia, Lymphadenopathy, Thrombocytopenia, Hypoplasia ... |
OMIM:603554 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Recurrent fractures, Hepatomegaly, Anemia, Splenomegaly, Osteopenia, Hyperparathyroidism |
OMIM:618107 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... |
OMIM:619375 |
| Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Leukocytosis, Pneumonia... |
ORPHA:3392 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Bronchiectasis, Thyroiditis, Generalized lymphadenopathy, Pneumonia, Pancytopenia, Lymphadenopath... |
OMIM:614700 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... |
OMIM:237800 |
| Folate Malabsorption, Hereditary |
|
Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia, Leukopenia |
OMIM:229050 |
| Hermansky-Pudlak Syndrome 8 |
|
Impaired platelet aggregation, Abnormal bleeding, Epistaxis, Menorrhagia, Bruising susceptibility... |
OMIM:614077 |
| Immunodeficiency 76 |
|
T lymphocytopenia, Lymphopenia, Colitis, B-cell lymphoma, Splenomegaly, B lymphocytopenia, Recurr... |
OMIM:619164 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Chronic myelomonocytic leukemia, Increased susceptibility to fractures, Abnormal mast cell morpho... |
ORPHA:98849 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Pulmonary hemorrhage, Neutropenia, Macrothrombocytopenia, Thrombocytopenia, Decreased platelet gl... |
OMIM:603585 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... |
OMIM:618849 |
| Congenital Factor Ii Deficiency |
|
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Prolonged bleeding... |
ORPHA:325 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Hepatomegaly, Hypogonadism, Anemia, Splenomegaly, Decreased mean corpuscular volume,... |
OMIM:615234 |
| Leishmaniasis |
|
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Rhini... |
ORPHA:507 |
| Prothrombin Deficiency, Congenital |
|
Joint hemorrhage, Prolonged bleeding time, Gastrointestinal hemorrhage, Prolonged prothrombin tim... |
OMIM:613679 |
| Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Bronchiectasis, Autoimmune hemolytic anemia, Recurrent sinusitis, Chronic atrophic gastritis, Thr... |
OMIM:616576 |
| Classic Mycosis Fungoides |
|
Skin rash, Abnormality of bone marrow cell morphology, Abnormal lymphocyte morphology, Lymphoma, ... |
ORPHA:2584 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Abnormality of bone marrow cell morphology, B-cell lymphoma, Hepatomegaly, Lymphoma, Breast carci... |
ORPHA:86893 |
| Neurofibromatosis-Noonan Syndrome |
|
Abnormality of the lymphatic system, Prolonged bleeding time |
ORPHA:638 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Skin rash, Allergic rhinitis, Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenome... |
OMIM:612714 |
| Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia |
OMIM:193670 |
| Gaucher Disease, Type Iii |
|
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:231000 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Thrombocytopenia, Skin rash, Lymphadenopathy |
OMIM:618048 |
| Vexas Syndrome |
|
Chondritis of pinna, Myelodysplasia, Arteritis, Neutrophilic infiltration of the skin, Nasal chon... |
OMIM:301054 |
| Sea-Blue Histiocytosis |
|
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy... |
ORPHA:158029 |
| Hemophilia B |
|
Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Joint hemorrhage, Spo... |
ORPHA:98879 |
| Aicardi-Goutieres Syndrome 7 |
|
Thrombocytopenia, Atopic dermatitis, Hepatomegaly, Splenomegaly |
OMIM:615846 |
| Malaria |
|
Thrombocytopenia, Anemia |
ORPHA:673 |
| Klippel-Trénaunay Syndrome |
|
Prolonged bleeding time, Gastrointestinal hemorrhage, Microcytic anemia, Internal hemorrhage, Hep... |
ORPHA:90308 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
| Syndromic Diarrhea |
|
Cirrhosis, Thrombocytosis, Hypothyroidism, Lymphopenia, Increased mean platelet volume, Colitis, ... |
ORPHA:84064 |
| Lymphoproliferative Syndrome 2 |
|
Hemophagocytosis, Lymphoproliferative disorder, Uveitis, Lymphoma, Pancytopenia, Hepatomegaly, Ho... |
OMIM:615122 |
| Babesiosis |
|
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Limitation ... |
ORPHA:108 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Abnormal calcium-phosphate regulating hormone level, Recurrent fractures, Hepatomegaly, Abnormali... |
ORPHA:417 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Goiter, Nephritis |
OMIM:274240 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Gaucher Disease Type 1 |
|
Cirrhosis, Osteolysis, Biliary tract obstruction, Pancytopenia, Thrombocytopenia, Hepatomegaly, S... |
ORPHA:77259 |
| Adult Idiopathic Neutropenia |
|
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia |
ORPHA:2688 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate production, Anemia, Sp... |
OMIM:613673 |
| Immunodeficiency 67 |
|
Transient neutropenia, Increased circulating IgE level, Liver abscess |
OMIM:607676 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Decreased proportion of class-switched memory B cells, Lymphoproliferative disorder, Increased pr... |
OMIM:615559 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pancytopenia, Thrombocytopenia, ... |
OMIM:259700 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Skin rash, Splenomegaly |
OMIM:619175 |
| Sickle Cell Anemia |
|
Iron deficiency anemia, Osteoporosis, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chron... |
ORPHA:232 |
| Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Increased circulating I... |
OMIM:600903 |
| Alpha-Thalassemia |
|
Myelodysplasia, Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomega... |
ORPHA:846 |
| Lathosterolosis |
|
Osteoporosis, Intrahepatic cholestasis, Increased mean platelet volume, Bilobate gallbladder, Ani... |
OMIM:607330 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Erythroderma, Hypothyroidism, Neut... |
OMIM:304790 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
| Lig4 Syndrome |
|
Myelodysplasia, Hypothyroidism, Thrombocytopenia, Pancytopenia, Psoriasiform dermatitis |
OMIM:606593 |
| Diffuse Neonatal Hemangiomatosis |
|
Hemangiomatosis, Thrombocytopenia, Hepatomegaly, Ascites, Anemia, Visceral angiomatosis |
ORPHA:2123 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia |
OMIM:618459 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia, Jaundice, Pancytopenia, Hepatomegaly |
OMIM:613839 |
| Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Leukopenia |
OMIM:614171 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... |
ORPHA:169154 |
| Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia, Flexion contracture, Chilblains |
OMIM:612952 |
| Gaucher Disease, Type Ii |
|
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Recurrent aspiration pneumonia |
OMIM:230900 |
| Autoinflammation With Infantile Enterocolitis |
|
Skin rash, Pancytopenia, Thrombocytopenia, Reduced natural killer cell count, Anemia, Splenomegal... |
OMIM:616050 |
| Noonan Syndrome 12 |
|
Atopic dermatitis, Lymphopenia, Glabellar hemangioma, Thrombocytopenia, Decreased response to gro... |
OMIM:618624 |
| Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... |
OMIM:618534 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... |
OMIM:603909 |
| X-Linked Agammaglobulinemia |
|
Skin rash, Chronic otitis media, Neutropenia, Sinusitis, Conjunctivitis, Hepatitis, Neoplasm, Rec... |
ORPHA:47 |
| Refractory Anemia With Excess Blasts |
|
Abnormality of bone marrow cell morphology, Dysplastic granulopoesis, Single lineage myelodysplas... |
ORPHA:86839 |
| Beta-Thalassemia Intermedia |
|
Persistence of hemoglobin F, Jaundice, Increased susceptibility to fractures, Elevated hepatic ir... |
ORPHA:231222 |
| Cyclic Neutropenia |
|
Peritonitis, Recurrent tonsillitis, Decreased eosinophil count, Periodontitis, Lymphopenia, Cycli... |
ORPHA:2686 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Osteoporosis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomeg... |
ORPHA:79303 |
| Immunodeficiency 55 |
|
Neutropenia |
OMIM:617827 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... |
OMIM:615631 |
| Tufted Angioma |
|
Facial hemangioma, Megakaryocytopenia, Thrombocytopenia, Anemia, Neoplasm of the skin |
ORPHA:1063 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Leukocytosis, Lymphadenopathy, Splenomegaly, Recurrent aphthous stomatitis, Erythema n... |
OMIM:611762 |
| Hemochromatosis, Type 3 |
|
Lymphopenia, Neutropenia, Anemia |
OMIM:604250 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Rhabdoid Tumor |
|
Neoplasm of the central nervous system, Renal neoplasm, Neoplasm of the liver, Thrombocytopenia, ... |
ORPHA:69077 |
| Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
| Fetal Gaucher Disease |
|
Arthrogryposis multiplex congenita, Flexion contracture, Pancytopenia, Thrombocytopenia, Hepatome... |
ORPHA:85212 |
| Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... |
OMIM:301000 |
| Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
| Isovaleric Acidemia |
|
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Leukopenia |
OMIM:243500 |
| Majeed Syndrome |
|
Pustule, Hypochromic microcytic anemia, Abnormality of bone marrow cell morphology, Leukocytosis,... |
ORPHA:77297 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Purpura, Epistaxis, Thrombocytopenia, Petechiae, Cerebral hemorrhage... |
ORPHA:3002 |
| Aregenerative Anemia |
|
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... |
ORPHA:101096 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
| Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Camptodactyly, Increased mean platelet volume |
OMIM:616737 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Pancreatitis |
ORPHA:79312 |
| Congenital Toxoplasmosis |
|
Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Anemia, Ascites, Lymphadenopathy |
ORPHA:858 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... |
ORPHA:766 |
| Congenital Rubella Syndrome |
|
Skin rash, Thrombocytopenia, Jaundice, Hepatomegaly, Type I diabetes mellitus, Anemia, Splenomegaly |
ORPHA:290 |
| Intermediate Osteopetrosis |
|
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... |
ORPHA:210110 |
| Chronic Intestinal Pseudoobstruction |
|
Abnormal platelet morphology |
ORPHA:2978 |
| Neonatal Lupus Erythematosus |
|
Skin rash, Hemolytic anemia, Maculopapular exanthema, Neutropenia, Pancytopenia, Thrombocytopenia... |
ORPHA:398124 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Skin rash, Lymphopenia, Panniculitis, Flexion contracture, Thrombocytopenia, Conjunctivitis, Hepa... |
OMIM:617591 |
| Autoerythrocyte Sensitization Syndrome |
|
Thrombocytosis, Impaired platelet adhesion, Joint hemorrhage, Autoimmune thrombocytopenia, Gastro... |
ORPHA:324636 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, Thrombocytosis, Leukocytosis, Decreased circulating total IgM, B lymphocytopenia, De... |
OMIM:619281 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... |
OMIM:224120 |
| Alpha-Heavy Chain Disease |
|
Lymphoma, Hepatomegaly, Ascites, Anemia, Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
| Wiskott-Aldrich Syndrome |
|
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Acute leukemia, Purpura, Epistaxi... |
ORPHA:906 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly |
OMIM:607685 |
| Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis |
OMIM:615947 |
| Autoimmune Lymphoproliferative Syndrome |
|
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:601859 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
| Good Syndrome |
|
Bronchiectasis, Aplasia/Hypoplasia of the thymus, Thrombocytopenia, Mediastinal lymphadenopathy, ... |
ORPHA:169105 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... |
OMIM:618986 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Persistent bleeding after trauma, Congenital thrombocytopenia, Epistaxis, Petechiae, Anemia of in... |
OMIM:300367 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:618852 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Abnormality of the hepatic vasculature, Nodular regenerative hyperplasia of liver, Thrombocytopen... |
ORPHA:210136 |
| Classic Hodgkin Lymphoma |
|
Skin rash, Osteolysis, Lymphoma, Neoplasm, Hepatomegaly, Splenomegaly, Bone marrow hypocellularit... |
ORPHA:391 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Impaired platelet aggregation |
OMIM:618372 |
| Juvenile Temporal Arteritis |
|
Leukocytosis, Conjunctivitis, Allergic rhinitis, Eosinophilia |
ORPHA:26137 |
| Griscelli Syndrome |
|
Abnormality of neutrophils, Thrombocytopenia, Jaundice, Hepatitis, Hepatomegaly, Ascites, Leukope... |
ORPHA:381 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, B lymphocytopenia, Neutropenia, Agammaglobulinemia |
OMIM:601495 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Cirrhosis, Hepatosplenomegaly, Anemia |
ORPHA:101028 |
| Mixed Connective Tissue Disease |
|
Hemolytic anemia, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Hepatomegaly, Le... |
ORPHA:809 |
| Gaucher Disease, Type I |
|
Multiple myeloma, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Pathologic fracture... |
OMIM:230800 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Thrombocytopenia, Hepatomegaly, Leukopenia, Anemia, Pancreatitis, Macrocytic anemia |
ORPHA:27 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Osteoporosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellul... |
OMIM:613989 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Cirrhosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Anemia, Sple... |
OMIM:616860 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Osteoporosis, Myelodysplasia, Cirrhosis, Interstitial pneumonitis, Lymphopenia, Thrombocytopenia,... |
OMIM:127550 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Osteoporosis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomeg... |
ORPHA:79301 |
| Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Neutropenia, Anemia, Anemia of inadequate production |
OMIM:614900 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Sarcoma, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Kaposi's sarcoma, Lymphadenopathy |
OMIM:612783 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Thrombocytopenia, Sideroblastic anemia |
OMIM:617021 |
| Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia, Increased bone mineral density |
ORPHA:1237 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Chronic otitis media, Pneumonia, Neoplasm, Thrombocytopenia, Hepatomegaly, Sple... |
ORPHA:169090 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:231154 |
| Letterer-Siwe Disease |
|
Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Anemia |
OMIM:246400 |
| Unclassified Myelodysplastic Syndrome |
|
Myelodysplasia, Leukocytosis, Acute myeloid leukemia, Multiple lineage myelodysplasia, Bone marro... |
ORPHA:98827 |
| Hemochromatosis, Type 2B |
|
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism |
OMIM:613313 |
| Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepatic echogenicity, Hepati... |
OMIM:278000 |
| Proteus Syndrome |
|
Hemangioma, Multiple lipomas, Mandibular hyperostosis, Thin bony cortex, Splenomegaly, Lymphangio... |
OMIM:176920 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Bronchiectasis, Increas... |
OMIM:615513 |
| Trichohepatoenteric Syndrome 1 |
|
Cirrhosis, Thrombocytosis, Increased mean platelet volume, Cholestasis, Hepatic fibrosis, Jaundic... |
OMIM:222470 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
OMIM:251190 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Osteopetrosis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Ascite... |
OMIM:259720 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased proportion of class-switched memory B cells, Bronchiectasis, Recurrent otitis media, Re... |
OMIM:607594 |
| Cinca Syndrome |
|
Abnormality of neutrophils, Retrobulbar optic neuritis, Leukocytosis, Abnormal granulocyte morpho... |
ORPHA:1451 |
| Wilson Disease |
|
Acute hepatitis, Cirrhosis, Hepatic steatosis, Thrombocytopenia, Jaundice, Hepatitis, Hepatomegal... |
ORPHA:905 |
| Preeclampsia |
|
Thrombocytopenia, Abnormality of the hepatic vasculature, Type I diabetes mellitus |
ORPHA:275555 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia |
OMIM:614946 |
| Autoimmune Lymphoproliferative Syndrome, Type V |
|
Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Chronic at... |
OMIM:616100 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Bronchiectasis, Thyroiditis, Delayed puberty, Oropharyngeal squamous cell carcinoma, Eczema, Auto... |
ORPHA:391487 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Eczema, Hemangioma, Joint laxity, Myelofibrosis |
OMIM:607721 |
| Wolfram Syndrome 2 |
|
Decreased circulating antibody level, Abnormal bleeding, Impaired collagen-induced platelet aggre... |
OMIM:604928 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Impaired memory B cell generation, Cirrhosis, Increased circulating IgM level, Hemolytic anemia, ... |
OMIM:308230 |
| Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Neutropenia |
OMIM:600351 |
| Transcobalamin Ii Deficiency |
|
Neutropenia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Decreased circulat... |
OMIM:275350 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Goiter, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia |
ORPHA:83601 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Bone-marrow foam cells, Hepatomegaly, Splenomegaly |
OMIM:607616 |
| Immunodeficiency 47 |
|
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly |
OMIM:300972 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Skin rash, Lymphadenitis, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cel... |
ORPHA:331206 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Thrombocytopenia, Diabetes mellitus |
ORPHA:49827 |
| Developmental And Epileptic Encephalopathy 66 |
|
Neutropenia, Anemia |
OMIM:618067 |
| Cinca Syndrome |
|
Skin rash, Leukocytosis, Uveitis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia, Arth... |
OMIM:607115 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Neutropenia, Anemia |
OMIM:617056 |
| Immunodeficiency, Common Variable, 2 |
|
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Follicular hyperplasia, Lymphoma, Ne... |
OMIM:240500 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Skin rash, Hemophagocytosis, Abnormality of multiple cell lineages in the bone marrow, Erythroder... |
ORPHA:540 |
| Barth Syndrome |
|
Granulocytopenia, Neutropenia |
OMIM:302060 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia |
OMIM:254900 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic anem... |
ORPHA:572 |
| Omenn Syndrome |
|
Leukocytosis, Thyroiditis, Erythroderma, Abnormal lymphocyte morphology, Hypothyroidism, Pneumoni... |
ORPHA:39041 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Megakaryocytopenia, Congenital thrombocytopenia, Aplastic anemia, Amegakaryocytic thrombocytopeni... |
OMIM:605432 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia |
OMIM:617248 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... |
OMIM:616689 |
| Propionic Acidemia |
|
Osteoporosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Pancreatitis, Ec... |
OMIM:606054 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
OMIM:614520 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
| Marburg Hemorrhagic Fever |
|
Skin rash, Thrombocytopenia, Jaundice, Leukopenia, Pancreatitis |
ORPHA:99826 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Decreased proportion of memory B cells, Abnormal natural killer cell count, Pa... |
ORPHA:79124 |
| Ebola Hemorrhagic Fever |
|
Thrombocytopenia, Skin rash, Leukopenia |
ORPHA:319218 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypothyroidism, Camptodactyly, Cholestasis, Thrombocytopenia, Hepatomegaly, Ascites, Anemia |
OMIM:608104 |
| Pediatric-Onset Graves Disease |
|
Puberty and gonadal disorders, Craniosynostosis, Increased circulating T4 level, Graves disease, ... |
ORPHA:525731 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Thrombocytopenia, Neutropenia, Anemia |
OMIM:614857 |
| Crimean-Congo Hemorrhagic Fever |
|
Skin rash, Hepatic steatosis, Uveitis, Thrombocytopenia, Jaundice, Leukopenia |
ORPHA:99827 |
| Hodgkin Lymphoma |
|
Lymphoma, Neoplasm, Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:98293 |
| Chédiak-Higashi Syndrome |
|
Increased proportion of CD25+ mast cells, Hemophagocytosis, Abnormal platelet function, Abnormal ... |
ORPHA:167 |
| Boutonneuse Fever |
|
Skin rash, Maculopapular exanthema, Thrombocytopenia, Leukopenia, Lymphadenopathy, Cervical lymph... |
ORPHA:83313 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Abscess, Skin rash, Pustule, Osteolysis, Periostitis, Stomatitis, Hepatomegaly, Splenomegaly, Neu... |
OMIM:612852 |
| Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Lipogranulomatosis, Arthritis |
OMIM:228000 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Abscess, Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative ... |
OMIM:618935 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Shwachman-Diamond Syndrome |
|
Skin rash, Pneumonia, Neutropenia, Pancytopenia, Pancreatic hypoplasia, Leukopenia, Sinusitis, An... |
ORPHA:811 |
| Autoimmune Lymphoproliferative Syndrome |
|
Non-Hodgkin lymphoma, Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis... |
ORPHA:3261 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Camptodactyly, Flexion contracture, Increased mean platelet volume, Thrombocytopenia, Abnormality... |
ORPHA:487796 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
| Acquired Purpura Fulminans |
|
Internal hemorrhage, Intracranial hemorrhage, Thrombocytopenia, Macular purpura, Prolonged prothr... |
ORPHA:49566 |
| Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly, Osteopenia |
OMIM:269920 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Neutropenia, Microcytic anemia |
OMIM:251900 |
| Immunodeficiency 32B |
|
Splenomegaly, Pneumonia, Bronchiectasis, Sinusitis |
OMIM:226990 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Camptodactyly, Thrombocytopenia, Left ventricular hypertrophy, Anemia, Osteopenia |
OMIM:611209 |
| Congenital Enterovirus Infection |
|
Skin rash, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Fetal ascites, Cholestasis,... |
ORPHA:292 |
| Prolidase Deficiency |
|
Thrombocytopenia, Crusting erythematous dermatitis, Hepatomegaly, Splenomegaly, Prolonged neonata... |
OMIM:170100 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
| Retinal Venous Beading |
|
Neutropenia |
OMIM:180080 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... |
ORPHA:3203 |
| Immunodeficiency 59 And Hypoglycemia |
|
Hypochromic anemia, Arteritis, Leukocytosis, Stomatitis, Thrombocytopenia, Hepatomegaly, Granuloc... |
OMIM:233600 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Thrombocytopenia, Malar rash, Anemia, Serositis |
ORPHA:231111 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Hepatomegaly, Petechiae, Cerebral hemor... |
ORPHA:99828 |
| Acute Promyelocytic Leukemia |
|
Bone marrow hypercellularity, Leukocytosis, Stomatitis, Neutropenia, Pancytopenia, Thrombocytopen... |
ORPHA:520 |
| Immunodeficiency 60 |
|
Decreased proportion of memory B cells, Bronchiectasis, Decreased basophil count, Ulcerative coli... |
OMIM:618394 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... |
ORPHA:1414 |
| Lichtenstein Syndrome |
|
Decreased circulating IgA level, Neutropenia |
OMIM:246550 |
| Kaposiform Lymphangiomatosis |
|
Osteolysis, Enlarged kidney, Pancreatic cysts, Abnormal lymphatic vessel morphology, Abnormal spl... |
ORPHA:464329 |
| Griscelli Syndrome Type 2 |
|
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly |
ORPHA:79477 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Abnormal dense granules, Recurrent bacterial skin infections, Periodontitis, Im... |
OMIM:214500 |
| Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Polycythemia, Cholelithiasis, Normocytic anemia, Jaundice, Normo... |
OMIM:222800 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
| Adult-Onset Still Disease |
|
Skin rash, Pericarditis, Leukocytosis, Generalized lymphadenopathy, Hepatomegaly, Hepatitis, Sple... |
ORPHA:829 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thrombocytopenia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Panniculitis, Pancytopenia, Anemia, Splenomegaly |
OMIM:618398 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... |
ORPHA:486 |
| Stormorken Syndrome |
|
Abnormal bleeding, Epistaxis, Thrombocytopenia, Asplenia, Anemia, Howell-Jolly bodies |
OMIM:185070 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Hypogonadism, Flexion contracture, Splenomegaly |
OMIM:608540 |
| Transaldolase Deficiency |
|
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Hepatomegaly... |
OMIM:606003 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Thrombocytopenia, Hepatomegaly, Tubulointerstitial nephritis, Leukopenia, Pancreatitis |
OMIM:251000 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Cardiomegaly, Anemia |
OMIM:618886 |
| Aicardi-Goutieres Syndrome 1 |
|
Multiple gastric polyps, Hypothyroidism, Chilblains, Thrombocytopenia, Hepatomegaly, Prolonged ne... |
OMIM:225750 |
| Pachydermoperiostosis |
|
Osteoporosis, Seborrheic dermatitis, Osteolysis, Abnormality of bone marrow cell morphology, Elev... |
ORPHA:2796 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... |
OMIM:608203 |
| Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Abnormality of multiple cell lineage... |
ORPHA:514 |
| Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Cheilitis, Pancytopenia, Thrombocytopenia, Eosinophilia |
ORPHA:90045 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... |
OMIM:612541 |
| Sialidosis Type 2 |
|
Osteoporosis, Flexion contracture, Hepatomegaly, Splenomegaly, Ascites, Abnormality of bone marro... |
ORPHA:87876 |
| Shwachman-Diamond Syndrome 1 |
|
Myelodysplasia, Exocrine pancreatic insufficiency, Persistence of hemoglobin F, Neutropenia, Panc... |
OMIM:260400 |
| Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly |
OMIM:611721 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholelithiasis, Normocytic anemia, Jaundice, No... |
OMIM:235700 |
| Relapsing Fever |
|
Abnormal bleeding, Leukocytosis, Epistaxis, Thrombocytopenia, Jaundice, Anemia, Leukopenia, Neutr... |
ORPHA:91547 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Osteoporosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellul... |
OMIM:613990 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
ORPHA:1959 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Myelodysplasia, Lymphopenia, Panniculitis, Neutropenia, Reticulocytopenia, Thrombocytopenia, B ly... |
ORPHA:508542 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis |
OMIM:612690 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Cephalohematoma, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage... |
ORPHA:853 |
| Schimke Immunoosseous Dysplasia |
|
Lymphopenia, Elevated circulating thyroid-stimulating hormone concentration, Neutropenia, Thrombo... |
OMIM:242900 |
| Sandhoff Disease |
|
Hepatomegaly, Splenomegaly |
ORPHA:796 |
| Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Pfapa Syndrome |
|
Hepatomegaly, Encephalitis, Splenomegaly, Lymphadenopathy, Arthritis |
ORPHA:42642 |
| Mirage Syndrome |
|
Radial club hand, Myelodysplasia, Hypergonadotropic hypogonadism, Lymphopenia, Thrombocytopenia, ... |
OMIM:617053 |
| Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:251110 |
| Poikiloderma With Neutropenia |
|
Neutropenia, Splenomegaly |
OMIM:604173 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Eczema, Perioral eczema, Keratoconjunctivitis |
ORPHA:79242 |
| Muckle-Wells Syndrome |
|
Skin rash, Camptodactyly of finger, Uveitis, Hepatomegaly, Conjunctivitis, Delayed puberty, Episc... |
ORPHA:575 |
| Splenoportal Vascular Anomalies |
|
