Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
Essential Thrombocythemia |
|
Abnormality of bone marrow cell morphology, Myelofibrosis, Splenomegaly, Increased megakaryocyte ... |
ORPHA:3318 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Abnormal platelet function, Anemia, Thrombo... |
ORPHA:231393 |
Glanzmann Thrombasthenia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:273800 |
Ghosal Hematodiaphyseal Dysplasia |
|
Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Leukopenia, Bone m... |
OMIM:231095 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Anisopoikilocytosis, Anemia, Thrombocytopenia |
OMIM:617441 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Glanzmann Thrombasthenia 2 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619267 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Macrothrombocytopenia, Thromb... |
OMIM:124900 |
Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:173590 |
Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Lymphocytosis, Myelofibrosis, Ac... |
ORPHA:86843 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Abnormal bleeding, Impaired platelet aggregation, Macrothrombocytopenia, Giant platele... |
OMIM:187800 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent otitis media, Chronic oral candidiasis, Myelofibrosis, Hemophagocytosis, Splenomegaly, ... |
OMIM:301078 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Bruising suscepti... |
OMIM:155100 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
+173470 integrin, beta-3 |
|
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Bruising suscepti... |
OMIM:173470 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den... |
OMIM:231200 |
Thrombocytopenia 6 |
|
Bone marrow hypercellularity, Thrombocytopenia, Osteoporosis, Myelofibrosis |
OMIM:616937 |
Gray Platelet Syndrome |
|
Impaired collagen-induced platelet aggregation, Myelofibrosis, Splenomegaly, Abnormal number of a... |
OMIM:139090 |
Athrombia, Essential |
|
Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding ... |
OMIM:209050 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia, Prolonged bleeding time |
OMIM:177820 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu... |
OMIM:615285 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Thrombocytopenia, Impaired platelet aggregation, Prolonged bleeding time |
OMIM:173420 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:615214 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Von Willebrand Disease, Type 3 |
|
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M... |
OMIM:277480 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187900 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Multicentric femoral head ossification, Enlarged tonsils, Leukocytosis, Delayed femoral head ossi... |
ORPHA:168621 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Bleeding Disorder, Platelet-Type, 8 |
|
Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding ... |
OMIM:609821 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... |
OMIM:619041 |
Slc35A1-Cdg |
|
Abnormal megakaryocyte morphology, Neutropenia, Pneumonia, Giant platelets, Thrombocytopenia, Abn... |
ORPHA:238459 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Bruising susceptibility, Acute monocytic leukemia, Impaired plate... |
OMIM:601399 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
Myelofibrosis |
|
Myeloproliferative disorder, Myelofibrosis, Splenomegaly |
OMIM:254450 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Bleeding Disorder, Platelet-Type, 18 |
|
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time |
OMIM:615888 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Petechiae, Bruising susceptibility, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytop... |
OMIM:314050 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Hermansky-Pudlak Syndrome 3 |
|
Bruising susceptibility, Abnormal bleeding, Abnormal number of dense granules, Gingival bleeding,... |
OMIM:614072 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia |
ORPHA:46532 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Myelofibrosis, Myeloid leukemia |
OMIM:616604 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Refractory anemia with ringed sideroblasts, Splenomegaly, Anemia, Thrombocytopenia,... |
OMIM:133180 |
Glanzmann Thrombasthenia |
|
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding following circumcision, Brui... |
ORPHA:849 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification |
ORPHA:3319 |
Fechtner syndrome |
|
Nephritis, Neutrophil inclusion bodies, Leukocyte inclusion bodies, Giant platelets, Thrombocytop... |
OMIM:153640 |
Myh9-Related Disease |
|
Nephritis, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platelet volu... |
ORPHA:182050 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia, Radioulnar synostosis |
ORPHA:71289 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Platelet Aggregation, Spontaneous |
|
Abnormal platelet function, Spontaneous platelet aggregation |
OMIM:173400 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Abnormal megakaryocyte morphology, Hepatomegaly, Hyposegmentatio... |
ORPHA:75564 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired platelet aggregation, Menorrhagia |
OMIM:617443 |
Quebec Platelet Disorder |
|
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Men... |
OMIM:601709 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time |
OMIM:188025 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... |
ORPHA:859 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis, Ecchymosis, Bruising sus... |
OMIM:614009 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
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 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:613501 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Osteoporosis |
OMIM:613606 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia, Thrombocytopenia |
OMIM:615085 |
Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Myelodysplasia, Splenomegaly |
ORPHA:721 |
Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia |
OMIM:614171 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Castleman Disease |
|
Decreased mean corpuscular volume, Myelofibrosis, Follicular hyperplasia, Mediastinal lymphadenop... |
ORPHA:160 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Hermansky-Pudlak Syndrome 5 |
|
Bruising susceptibility, Menorrhagia, Impaired ADP-induced platelet aggregation, Absent platelet ... |
OMIM:614074 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Osteopenia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Immunodeficiency 46 |
|
Anemia, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Skin rash, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R... |
OMIM:614493 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Bruising susceptibility, Myeloproliferative disorder, I... |
ORPHA:3226 |
Idiopathic Hypereosinophilic Syndrome |
|
Pancreatitis, Neutrophilia, Cervical lymphadenopathy, Eczema, Erythroderma, Portal fibrosis, Coli... |
ORPHA:3260 |
Pelger-Huet Anomaly |
|
Recurrent otitis media, Eczema, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils... |
OMIM:169400 |
Fanconi Anemia, Complementation Group V |
|
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... |
OMIM:614470 |
Von Willebrand Disease, Type 1 |
|
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Prolonged bleeding a... |
OMIM:193400 |
Polycythemia Vera |
|
Hepatomegaly, Myelofibrosis, Splenomegaly, Myelodysplasia, Portal hypertension, Acute leukemia |
ORPHA:729 |
Hermansky-Pudlak Syndrome 6 |
|
Bruising susceptibility, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis... |
OMIM:614075 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Decreased mean platelet volume, Inflammation of the large intestine, Thrombocytope... |
OMIM:617718 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Abnormal megakaryocyte morphology, Hypochromic anemia, Anisocyto... |
ORPHA:67044 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Abnormal bleeding, Reticulocytosis, Impaired platelet ag... |
OMIM:210250 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Petechiae, Abnormally low T cell receptor excisio... |
OMIM:619374 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Jaundice, Hemophagocytosis, Splenomegaly, Skin rash, Neutropenia, Anemia, Thrombocy... |
OMIM:603552 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia, Multiple lipomas |
ORPHA:529 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Immunodeficiency 16 |
|
Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Spastic Paraplegia And Evans Syndrome |
|
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia |
OMIM:601608 |
Bleeding Disorder, Platelet-Type, 12 |
|
Joint hemorrhage, Intestinal bleeding, Bruising susceptibility, Menorrhagia, Impaired platelet ag... |
OMIM:605735 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Osteopetrosis, Autosomal Recessive 4 |
|
Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytos... |
OMIM:611490 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Hepatomegaly, Abnormality of the liver |
ORPHA:1980 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Petechiae, Hematemesis, Bruising susceptibility... |
ORPHA:274 |
Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly |
OMIM:153670 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Acute leukemia, Decreased mean platelet volume, Prolonged bleeding time |
OMIM:185050 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Abnormality of bone marrow cell morphology, Skin rash, Splenomegaly, Rheumatoid art... |
ORPHA:100026 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Recurrent ot... |
ORPHA:444463 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Thrombocytopenia |
OMIM:300048 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... |
OMIM:245480 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia, Chilblains |
OMIM:610329 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia |
OMIM:229050 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormality of bone marrow cell morphology, Splenomegaly, Osteoporosis, Abnormal B ... |
ORPHA:100024 |
Non-Involuting Congenital Hemangioma |
|
Hemangioma, Perineal hemangioma, Hepatic hemangioma, Midfrontal capillary hemangioma, Thrombocyto... |
ORPHA:141179 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Multiple myeloma, Hemophagocytosis, T-cell lymphoma, Pancytopenia, Burkitt lymphoma, Splenomegaly... |
ORPHA:158057 |
Diamond-Blackfan Anemia 4 |
|
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612527 |
Mantle Cell Lymphoma |
|
B-cell lymphoma, Lymphadenopathy, Abnormality of bone marrow cell morphology, Splenomegaly |
ORPHA:52416 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Immunodeficiency 104 |
|
Hepatomegaly, Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candid... |
OMIM:608971 |
Progressive Familial Intrahepatic Cholestasis |
|
Neoplasm, Hepatomegaly, Reduced bone mineral density, Splenomegaly, Cholestasis, Abnormality of t... |
ORPHA:172 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... |
ORPHA:169079 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Ulcerative colitis |
OMIM:619398 |
Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Skin rash, Lymphoma, Ar... |
ORPHA:37748 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
Bleeding Disorder, Platelet-Type, 11 |
|
Bruising susceptibility, Menorrhagia, Ecchymosis, Epistaxis, Prolonged bleeding time |
OMIM:614201 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Splenomegaly |
ORPHA:1802 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Hodgkin lymphoma, B-cell lymphoma, Splenomegaly, Lymphoproliferative disorder, Autoimmune thrombo... |
OMIM:300853 |
Hermansky-Pudlak Syndrome 7 |
|
Abnormal bleeding, Impaired platelet aggregation, Epistaxis, Bruising susceptibility |
OMIM:614076 |
Blue Rubber Bleb Nevus |
|
Microcytic anemia, Intestinal bleeding, Prolonged bleeding time |
ORPHA:1059 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Reduced bone mineral density, He... |
ORPHA:848 |
Primary Myelofibrosis |
|
Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Hepatomegaly, Abnormality of bon... |
ORPHA:824 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Osteopetrosis, Autosomal Recessive 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Chronic rhini... |
OMIM:259710 |
Hermansky-Pudlak Syndrome 11 |
|
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Reduced platelet dense g... |
OMIM:619172 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:88 |
Felty Syndrome |
|
Sinusitis, Rhinitis, Hepatomegaly, Splenomegaly, Chronic otitis media, Abnormal lymphocyte morpho... |
ORPHA:47612 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:613502 |
Bleeding Disorder, Platelet-Type, 14 |
|
Epistaxis, Ecchymosis, Bruising susceptibility, Prolonged bleeding time |
OMIM:614158 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Isolated Agammaglobulinemia |
|
Sinusitis, Skin rash, Otitis media, Abnormality of the lymphatic system, Abnormal lymphocyte morp... |
ORPHA:229717 |
Rapidly Involuting Congenital Hemangioma |
|
Hemangioma, Perineal hemangioma, Hepatic hemangioma, Midfrontal capillary hemangioma, Thrombocyto... |
ORPHA:141184 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Recurrent sinusitis, Anemia, Thrombo... |
OMIM:613101 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Lymphoproliferative Syndrome 1 |
|
Hodgkin lymphoma, B-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoproliferative disorder, Leuk... |
OMIM:613011 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Maculopapular exanthema, Hepatosplenome... |
ORPHA:98850 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia |
OMIM:598500 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... |
OMIM:150550 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Abnormality of bone marrow strom... |
ORPHA:86841 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Osteopetrosis, Hepatosple... |
OMIM:612840 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia |
OMIM:607616 |
Factor V Deficiency |
|
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged prothrombin time, P... |
OMIM:227400 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia, Ascites |
ORPHA:295 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Burkitt lymphoma, Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulmi... |
OMIM:308240 |
Specific Granule Deficiency 2 |
|
Recurrent otitis media, Bone marrow maturation arrest, Osteopenia, Myelodysplasia, Recurrent pneu... |
OMIM:617475 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Thrombocytopeni... |
OMIM:608233 |
Immunodeficiency 84 |
|
B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Juvenile Arthritis |
|
Thrombocytosis, Skin rash, Leukocytosis |
OMIM:618795 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenom... |
OMIM:619220 |
Bone Marrow Failure Syndrome 4 |
|
Eczema, Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia |
OMIM:618116 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Radioulnar synostosis, Joint contracture of the 5th finger, Pancytopenia, Thr... |
OMIM:194350 |
Systemic Lupus Erythematosus |
|
Nephritis, Leukopenia, Arthritis, Hemolytic anemia, Lupus nephritis, Malar rash, Pericarditis, Th... |
OMIM:152700 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Thrombocytopenia, Joint laxity, Osteoporosis |
OMIM:614727 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia, Glomerulonephritis |
OMIM:615008 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Systemic Lupus Erythematosus 17 |
|
Optic neuritis, Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Myelitis, Malar rash, Throm... |
OMIM:301080 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Abnormality of bone marrow ... |
ORPHA:98848 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Colitis, Hepatosplenomegaly, Sterile abscess, Arthritis, Acne, Thrombocytosis, Micro... |
OMIM:604416 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Immunodeficiency 76 |
|
B-cell lymphoma, Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurr... |
OMIM:619164 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Lymphopenia, Skin rash, Anterior uveitis, Hemolytic anemia, Thrombocytopenia |
OMIM:616744 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Thrombocytopenia 1 |
|
Joint hemorrhage, Eczema, Congenital thrombocytopenia, Decreased mean platelet volume, Intermitte... |
OMIM:313900 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:610333 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Subcutaneous hemorrhage, Pulmonary hemorrhage, Macrothrombocytopenia, Neutropenia, Thrombocytopen... |
OMIM:603585 |
Tularemia |
|
Cutaneous abscess, Conjunctivitis, Leukocytosis, Otitis media, Skin rash, Cervical lymphadenopath... |
ORPHA:3392 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... |
OMIM:618849 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Splenomegaly, Recurrent skin infections, A... |
OMIM:300635 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Multiple myeloma, Hepatomegaly, Neutrophilia, Lymphadenopathy, Bone marrow hypercellularity, Abno... |
ORPHA:98849 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Leishmaniasis |
|
Rhinitis, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Pancytopenia, A... |
ORPHA:507 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Skin rash, Calv... |
OMIM:612714 |
Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia |
OMIM:193670 |
Amed Syndrome, Digenic |
|
Leukopenia, Myelodysplasia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acute myeloid ... |
OMIM:619151 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... |
ORPHA:232 |
Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
Gaucher Disease, Type Iii |
|
Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia |
OMIM:231000 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Hemangioma, Thrombocytopenia |
OMIM:141000 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Eczema, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Ly... |
OMIM:619802 |
Vexas Syndrome |
|
Chondritis of pinna, Inflammatory abnormality of the skin, Nasal chondritis, Arthritis, Macrocyti... |
OMIM:301054 |
Hermansky-Pudlak Syndrome 8 |
|
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Gingival bleeding, Impaired platelet agg... |
OMIM:614077 |
Tufted Angioma |
|
Megakaryocytopenia, Facial hemangioma, Neoplasm of the skin, Anemia, Thrombocytopenia, Hemangioma... |
ORPHA:1063 |
Congenital Factor Ii Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... |
ORPHA:325 |
Thyrocerebrorenal Syndrome |
|
Thrombocytopenia, Nephritis |
ORPHA:3327 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
B-cell lymphoma, Abnormality of bone marrow cell morphology, Hepatomegaly, Breast carcinoma, Sple... |
ORPHA:86893 |
Sea-Blue Histiocytosis |
|
Blepharitis, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thr... |
ORPHA:158029 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent skin infections, Atrophic gastritis, Recurrent sinusitis, Recurrent pneumonia, Bronchie... |
OMIM:616576 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hemangiomatosis, Anemia, Thrombocytopenia, Ascites, Visceral angiomatosis |
ORPHA:2123 |
Neurofibromatosis-Noonan Syndrome |
|
Abnormality of the lymphatic system, Prolonged bleeding time |
ORPHA:638 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hodgkin lymphoma, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thromb... |
OMIM:619375 |
Prothrombin Deficiency, Congenital |
|
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... |
OMIM:613679 |
Classic Mycosis Fungoides |
|
Cutaneous T-cell lymphoma, Hepatomegaly, Abnormality of bone marrow cell morphology, Skin rash, S... |
ORPHA:2584 |
Lymphoproliferative Syndrome 2 |
|
Hodgkin lymphoma, Hepatomegaly, Hemophagocytosis, Splenomegaly, Lymphoproliferative disorder, Hep... |
OMIM:615122 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia, Chilblains, Flexion contracture |
OMIM:612952 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Lymphoproliferative disorder, B lymphocytopenia, Uveitis, Pneumonia, Pancytopenia, Lymphadenopath... |
OMIM:614700 |
Babesiosis |
|
Hepatomegaly, Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia, Jaundice, Limitation ... |
ORPHA:108 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Microcytic anemia, Internal hemorrhage, Gastrointestinal hemorrhage, Ascites, Prolo... |
ORPHA:90308 |
Lathosterolosis |
|
Hepatosplenomegaly, Anisopoikilocytosis, Osteoporosis, Acanthocytosis, Schistocytosis, Increased ... |
OMIM:607330 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Jaundice |
OMIM:613839 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia |
OMIM:618459 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Dysplastic granulopoesis, Abnormality of bone marrow cell morpho... |
ORPHA:86839 |
Osteopetrosis, Autosomal Recessive 1 |
|
Osteomyelitis, Hepatomegaly, Increased bone mineral density, Craniosynostosis, Splenomegaly, Oste... |
OMIM:259700 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Myeloid maturation arrest, Splenomegaly |
OMIM:619813 |
Stuve-Wiedemann Syndrome 2 |
|
Eczema, Thrombocytopenia, Camptodactyly |
OMIM:619751 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Myelodysplasia, Microcytic a... |
ORPHA:846 |
Hemophilia B |
|
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... |
ORPHA:98879 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Skin rash, Splenomegaly |
OMIM:619175 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Liver abscess, Transient neutropenia |
OMIM:607676 |
Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Skin rash, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Reduced natural k... |
OMIM:616050 |
Osteopetrosis, Autosomal Dominant 3 |
|
Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopenia, Anemia |
OMIM:618107 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Recurrent aspiration pneumonia, Anemia, Thrombocytopenia |
OMIM:230900 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia |
ORPHA:2688 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Syndromic Diarrhea |
|
Colitis, Lymphopenia, Gastritis, Hepatomegaly, Splenomegaly, Hepatoblastoma, Cirrhosis, Hypoplasi... |
ORPHA:84064 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating antibody level, Lymphopenia, Lymphocytosis, Increased circulating IgA level... |
ORPHA:169154 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Osteopenia, Leukopenia, Osteoarthriti... |
ORPHA:77259 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Neoplasm, Skin rash, Chronic otitis media, Abnormality of the lymphatic... |
ORPHA:47 |
Cyclic Neutropenia |
|
Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Otitis media, Recurrent skin infections, Ce... |
ORPHA:2686 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:603909 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... |
OMIM:600903 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Lym... |
OMIM:615559 |
Immunodeficiency 64 |
|
B-cell lymphoma, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, ... |
OMIM:618534 |
Fetal Gaucher Disease |
|
Hepatomegaly, Flexion contracture, Splenomegaly, Abnormality of the spleen, Arthrogryposis multip... |
ORPHA:85212 |
Noonan Syndrome 12 |
|
Atopic dermatitis, Thrombocytopenia, Lymphopenia, Glabellar hemangioma |
OMIM:618624 |
Chronic Intestinal Pseudoobstruction |
|
Abnormal platelet morphology |
ORPHA:2978 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Proteus Syndrome |
|
Lymphangioma, Lipoma, Calvarial hyperostosis, Splenomegaly, Hemangioma, Multiple lipomas, Thin bo... |
OMIM:176920 |
Intermediate Osteopetrosis |
|
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... |
ORPHA:210110 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Pneumonia, Absence of CD8-positive T cells |
OMIM:269840 |
Isovaleric Acidemia |
|
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Pancytopenia |
OMIM:243500 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Nephritis |
OMIM:274240 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Hepatoportal Sclerosis |
|
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... |
ORPHA:64743 |
Wiskott-Aldrich Syndrome |
|
Hematochezia, Spontaneous hematomas, Prolonged bleeding time, Recurrent intrapulmonary hemorrhage... |
ORPHA:906 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Anemia, Thrombocyt... |
ORPHA:69077 |
Lig4 Syndrome |
|
Myelodysplasia, Thrombocytopenia, Psoriasiform dermatitis, Pancytopenia |
OMIM:606593 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Leukocytosis, Splenomegaly, Arthritis, Recurrent aphthous stomatitis, Lymphadenopathy,... |
OMIM:611762 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Ascites, Anemia, Thrombocytopenia, Jaundice, Cardiomegaly, Lymphadenopathy |
ORPHA:858 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Abnormality of the hepatic vasculature, Hepatosplenomegaly, Nodular regenerative hyperplasia of l... |
ORPHA:210136 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Juvenile Temporal Arteritis |
|
Allergic rhinitis, Eosinophilia, Conjunctivitis, Leukocytosis |
ORPHA:26137 |
Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Hepatomegaly, Increased bone mineral density, Splenomegaly |
ORPHA:2204 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Sinusitis, Lymphopenia, Hepatomegaly, Flexion contracture, Splenomegaly, Skin rash, Myositis, Lym... |
OMIM:617591 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Majeed Syndrome |
|
Osteomyelitis, Inflammatory abnormality of the skin, Increased bone mineral density, Leukocytosis... |
ORPHA:77297 |
Takenouchi-Kosaki Syndrome |
|
Increased mean platelet volume, Thrombocytopenia, Camptodactyly |
OMIM:616737 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:79312 |
Neonatal Lupus Erythematosus |
|
Neutropenia, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Aplastic anemia, Hem... |
ORPHA:398124 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... |
ORPHA:35858 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... |
OMIM:619705 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... |
OMIM:619281 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonep... |
OMIM:304790 |
Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hemophagocytosis, Maculopapular exanthema, Hepatosplenomegaly, Monocy... |
OMIM:619644 |
Immune Thrombocytopenia |
|
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... |
ORPHA:3002 |
Hemochromatosis, Type 3 |
|
Anemia, Lymphopenia, Neutropenia |
OMIM:604250 |
Transaldolase Deficiency |
|
Cirrhosis, Anemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:101028 |
Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Thrombocytopenia, Neutropenia |
ORPHA:289916 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Juvenile rheumatoid arthritis, Hepatitis, Increased... |
ORPHA:158061 |
Unclassified Myelodysplastic Syndrome |
|
Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia, Bone marrow hypocellularity, Acute... |
ORPHA:98827 |
Autoerythrocyte Sensitization Syndrome |
|
Joint hemorrhage, Impaired platelet adhesion, Bruising susceptibility, Intracranial hemorrhage, A... |
ORPHA:324636 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Thrombocytopenia |
OMIM:617021 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Immunodeficiency 102 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:301082 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphoma, Anemia, Ascites, Lymphadenopathy |
ORPHA:100025 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:601859 |
Wiskott-Aldrich Syndrome |
|
Melena, Decreased mean platelet volume, Prolonged bleeding time, Abnormal delayed hypersensitivit... |
OMIM:301000 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Absent circulating B cells, Eczematoid dermatitis, Thrombocytopenia |
OMIM:619693 |
Gaucher Disease, Type I |
|
Multiple myeloma, Hepatomegaly, Splenomegaly, Pathologic fracture, Pancytopenia, Anemia, Thromboc... |
OMIM:230800 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Hepatomegaly, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia |
ORPHA:27 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Lymphopenia, Cirrhosis, Interstitial pneumonitis, Aplastic anemia, Osteoporosis, Myelodysplasia, ... |
OMIM:127550 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia, Increased bone mineral density |
ORPHA:1237 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Leukopenia, Abnormality of neutrophils, Hepatitis, Bone marrow hypoce... |
ORPHA:381 |
Classic Hodgkin Lymphoma |
|
Neoplasm, Hepatomegaly, Skin rash, Splenomegaly, Lymphoma, Osteolysis, Bone marrow hypocellularit... |
ORPHA:391 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Decreased circulating IgG level, Partial absence of specific antibody r... |
OMIM:618986 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Abnormality of the pancreas, Increased mean p... |
OMIM:222470 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Neoplasm, Hepatomegaly, Splenomegaly, Chronic otitis media, Hemolytic anemia, Pneumonia, Thromboc... |
ORPHA:169090 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Kaposi's sarcoma, Lymphadenopathy |
OMIM:612783 |
3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation, Iron deficiency anemia |
OMIM:618372 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Bronchiec... |
OMIM:615513 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Hepatosplenomegaly, Stomatitis, Neutropenia, Anemia, Thrombocytopenia, Jau... |
OMIM:246400 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Anemia of inadequate production, Petechiae, Persistent bleeding after trauma, Bruising susceptibi... |
OMIM:300367 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Osteoporosis, Biliary tract abnormality, Neonatal cholesta... |
ORPHA:79301 |
Mixed Connective Tissue Disease |
|
Hepatomegaly, Splenomegaly, Leukopenia, Mediastinal lymphadenopathy, Hemolytic anemia, Purpura, G... |
ORPHA:809 |
Braddock-Carey Syndrome 2 |
|
Megakaryocytopenia, Thrombocytopenia |
OMIM:619981 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Anemia, Thrombocytopenia, Jaundice |
ORPHA:290 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Anemia, Neutropenia |
OMIM:614900 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
OMIM:251190 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Hyperextensibility of the finger joints, Limitation of knee mobility,... |
OMIM:228000 |
Cinca Syndrome |
|
Leukocytosis, Skin rash, Eosinophilia, Hepatosplenomegaly, Arthritis, Uveitis, Anemia, Lymphadeno... |
OMIM:607115 |
Wilson Disease |
|
Hepatomegaly, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Arthritis, Pathologic ... |
ORPHA:905 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Thrombocytopenia |
OMIM:614946 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Hemangioma, Eczema, Joint laxity, Myelofibrosis |
OMIM:607721 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:275350 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatomegaly, Skin rash, Eosinophilia, Hepatosplenomegaly, Ly... |
ORPHA:331206 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Lymphopenia, Hepatomegaly, Splenomegaly, Eczema, Atrophic gastritis, Autoimmune ... |
OMIM:616100 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Limited pronation/supination of forearm, Amegakaryocytic thrombocytopenia, Proximal radio-ulnar s... |
OMIM:605432 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Skin rash, Lymphadenopathy, B lymphocytopenia, Increased CD4:CD8 ratio, Thrombocytopenia, Neutrop... |
OMIM:618048 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Colitis, Hepatomegaly, Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Skin rash, Macu... |
ORPHA:540 |
Propionic Acidemia |
|
Pancreatitis, Hepatomegaly, Eczema, Osteoporosis, Pancytopenia, Neutropenia, Anemia, Thrombocytop... |
OMIM:606054 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy, Sarcoma |
ORPHA:66661 |
Immunodeficiency, Common Variable, 2 |
|
Neoplasm, Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphoma, Recurrent sinusitis, Recu... |
OMIM:240500 |
Cinca Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Reduced bone mineral density, Abnormal granulocyte morp... |
ORPHA:1451 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... |
ORPHA:231222 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia |
OMIM:254900 |
Good Syndrome |
|
Abnormal leukocyte morphology, Thymoma, Sinusitis, Recurrent skin infections, Mediastinal lymphad... |
ORPHA:169105 |
Wolfram Syndrome 2 |
|
Abnormal bleeding, Impaired collagen-induced platelet aggregation, Decreased circulating antibody... |
OMIM:604928 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Neutropenia |
OMIM:600351 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia |
ORPHA:54057 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Lack of T cell function, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombo... |
ORPHA:572 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia |
OMIM:617248 |
Immunodeficiency 92 |
|
Osteomyelitis, Hepatomegaly, Lymphocytosis, Leukocytosis, Sclerosing cholangitis, B lymphocytopen... |
OMIM:619652 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Bone marrow hypocellularity, Cirrhosis, Thrombocytopenia, Pancytopenia |
OMIM:613987 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... |
OMIM:619824 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Mgat2-Cdg |
|
Decreased circulating IgG level, Abnormal bleeding, Impaired lymphocyte transformation with phyto... |
ORPHA:79329 |
Acquired Purpura Fulminans |
|
Macular purpura, Intracranial hemorrhage, Internal hemorrhage, Thrombocytopenia, Prolonged prothr... |
ORPHA:49566 |
Immunodeficiency 32B |
|
Bronchiectasis, Sinusitis, Pneumonia, Splenomegaly |
OMIM:226990 |
Neonatal Severe Primary Hyperparathyroidism |
|
Recurrent fractures, Hepatomegaly, Splenomegaly |
ORPHA:417 |
Boutonneuse Fever |
|
Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Leukopenia, Thrombocytopenia, Lymph... |
ORPHA:83313 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Neutropenia |
OMIM:614520 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisocytosis, Hepatos... |
OMIM:616860 |
Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Periostitis, Osteomyelitis, Hepatomegaly, Neutrophilia, Pustule, Splenomegaly, Skin rash, Osteope... |
OMIM:612852 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Flexion contracture, Abnormality of the lymphatic system, Camptodactyly, Increased mean platelet ... |
ORPHA:487796 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Splenomegal... |
ORPHA:167 |
Hodgkin Lymphoma |
|
Neoplasm, Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy |
ORPHA:98293 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, T lymphocytopenia, Pancy... |
ORPHA:79124 |
Blue Rubber Bleb Nevus |
|
Hemangioma, Pathologic fracture, Iron deficiency anemia, Cerebellar medulloblastoma, Thrombocytop... |
OMIM:112200 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Serositis, Malar rash, Anemia, Thrombocytopenia |
ORPHA:231111 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Left ventricular hypertrophy, Camptodactyly, Anemia, Thrombocytopenia |
OMIM:611209 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619752 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Reduced bone mineral density, Splenomegaly, Cirrhosis, Multiple lipomas, Abnormalit... |
ORPHA:1414 |
Preeclampsia |
|
Abnormality of the hepatic vasculature, Thrombocytopenia |
ORPHA:275555 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Neutropenia |
OMIM:251900 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Leukopenia, Aplastic anemia, Osteoporosis, Pancytopenia, Bone marrow hypocellularity, Thrombocyto... |
OMIM:613990 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Inflammatory abnormality of th... |
ORPHA:391487 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Aplastic anemia, Osteoporosis, Pancytopenia, Hepatic fibrosis, Neutropenia, Bone marr... |
OMIM:613989 |
Prolidase Deficiency |
|
Hepatomegaly, Splenomegaly, Eczema, Recurrent pneumonia, Crusting erythematous dermatitis, Prolon... |
OMIM:170100 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Omenn Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Lymphoma,... |
ORPHA:39041 |
Acute Promyelocytic Leukemia |
|
Bone marrow hypercellularity, Leukocytosis, Leukopenia, Pancytopenia, Stomatitis, Neutropenia, An... |
ORPHA:520 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Thrombocytopenia, Hashimoto thyroiditis, Leukocytosis |
ORPHA:83601 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Abnormality of bone marrow cell morphology, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Anemia, Cardiomegaly |
OMIM:618886 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Eczema, Ly... |
OMIM:618935 |
Congenital Enterovirus Infection |
|
Leukocytosis, Skin rash, Leukopenia, Myocarditis, Abnormal macrophage morphology, Cholestasis, He... |
ORPHA:292 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Kaposiform Lymphangiomatosis |
|
Papilloma, Lymphangioma, Splenomegaly, Fractures of the long bones, Hepatosplenomegaly, Abnormal ... |
ORPHA:464329 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Thrombocytopenia |
ORPHA:49827 |
Relapsing Fever |
|
Neutrophilia, Leukocytosis, Abnormal bleeding, Leukopenia, Epistaxis, Anemia, Thrombocytopenia, J... |
ORPHA:91547 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:612126 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Splenomegaly, Pancytopenia, Anemia, Panniculitis |
OMIM:618398 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Osteopenia, Ascites, Cardiomegaly |
OMIM:269920 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Cheilitis, Eosinophilia, Pancytopenia, Thrombocytopenia |
ORPHA:90045 |
Retinal Venous Beading |
|
Neutropenia |
OMIM:180080 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Anemia |
OMIM:613313 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Leukopenia, Throm... |
OMIM:278000 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
Zika Virus Disease |
|
Skin rash, Maculopapular exanthema, Myelitis, Arthritis, Infectious encephalitis, Thrombocytopeni... |
ORPHA:448237 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased... |
OMIM:308230 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphocytic interstitial pneumonia, Hepatomegaly, Splenomegaly, Recurrent otitis media, Autoimmun... |
OMIM:618495 |
Chediak-Higashi Syndrome |
|
Periodontitis, Recurrent bacterial skin infections, Hepatomegaly, Hemophagocytosis, Splenomegaly,... |
OMIM:214500 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... |
ORPHA:486 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Splenomegaly, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Hemophagocytic Syndrome Associated With An Infection |
|
Neutropenia, Hepatomegaly, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, A... |
ORPHA:158048 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Non-Hodgkin lymphoma, Hyper... |
ORPHA:3261 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... |
OMIM:266200 |
Dengue Fever |
|
Petechiae, Hepatomegaly, Cerebral hemorrhage, Bruising susceptibility, Leukopenia, Gingival bleed... |
ORPHA:99828 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Extramedullary hematopo... |
OMIM:259720 |
Transaldolase Deficiency |
|
Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Hepatic fibros... |
OMIM:606003 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Skin rash, Myocarditis, Arthritis, Genera... |
ORPHA:829 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Anisopoikilocytosis, Neutropenia |
OMIM:619835 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Leukopenia, Eczema, B lymphocytopenia, Myelodysplasia, Megakaryocyte dysplasia, Neut... |
ORPHA:508542 |
Stormorken Syndrome |
|
Abnormal bleeding, Anemia, Thrombocytopenia, Epistaxis, Asplenia, Howell-Jolly bodies |
OMIM:185070 |
Shwachman-Diamond Syndrome 1 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Persistence of hemoglobin F, Pancytopenia, Myelo... |
OMIM:260400 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Colitis, Splenomegaly, Decreased basophil count, Ulcerative colitis, Pancytopeni... |
OMIM:618394 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... |
OMIM:301081 |
Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Melena, Petechiae, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Intracranial hemorrha... |
ORPHA:853 |
Sialidosis Type 2 |
|
Hepatomegaly, Abnormality of bone marrow cell morphology, Flexion contracture, Splenomegaly, Oste... |
ORPHA:87876 |
Acute Monoblastic/Monocytic Leukemia |
|
Bone marrow hypercellularity, Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic le... |
ORPHA:514 |
Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Osteopenia, Eczema, Aplastic anemia, Macrocytic ... |
ORPHA:811 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Skin rash, Hepatosplenomegaly, Leukopenia, Infectio... |
OMIM:603553 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Neoplasm, Bone marrow hypocellularity, Anemia, Thrombocytopenia |
ORPHA:3322 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia |
ORPHA:163596 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
ORPHA:1959 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Pancreatitis, Hepatomegaly, Leukopenia, Tubulointerstitial nephritis, Neutropenia, Thrombocytopenia |
OMIM:251000 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|