Platelet Aggregation, Spontaneous |
|
Spontaneous platelet aggregation, Abnormal platelet function |
OMIM:173400 |
Athrombia, Essential |
|
Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggregation |
OMIM:209050 |
Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619130 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time |
OMIM:314560 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... |
OMIM:187950 |
Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... |
OMIM:173590 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
Glanzmann Thrombasthenia 2 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... |
OMIM:619267 |
Tatsumi Factor Deficiency |
|
Prolonged bleeding time |
OMIM:272650 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... |
OMIM:615888 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
Myelolymphatic Insufficiency |
|
Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Recurrent vira... |
OMIM:310350 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, T lymphocytopenia, Decreased circul... |
OMIM:242870 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Abnormal platelet count, Impaired ristocetin-induced platelet aggregatio... |
OMIM:614201 |
Platelet Disorder, Undefined |
|
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Glanzmann Thrombasthenia 1 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... |
OMIM:273800 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Neutropenia, Recurrent streptococcus pneumoniae infections, Recur... |
ORPHA:70592 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... |
OMIM:187800 |
Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time, Thrombocytopenia, Giant platelets |
OMIM:608404 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... |
ORPHA:2585 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Glanzmann Thrombasthenia |
|
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... |
ORPHA:849 |
Mannose-Binding Lectin Deficiency |
|
Recurrent meningococcal disease, Recurrent Klebsiella infections, Recurrent herpes, Disseminated ... |
OMIM:614372 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Immunodeficiency 110 With Lymphoproliferation |
|
Lymphopenia, Recurrent bacterial infections, Recurrent viral infections, Neutropenia, Recurrent f... |
OMIM:614868 |
Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation |
OMIM:614009 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Neutropenia, Recurrent respiratory infections, Recurrent otitis m... |
OMIM:616022 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG, Recurrent bacterial infections, Recurrent respiratory in... |
OMIM:613495 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Recurrent otitis media, Absent circu... |
OMIM:613500 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Recurrent bacterial infec... |
OMIM:202700 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... |
ORPHA:169079 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Absent isohemagglutinin level, Recurrent bronchitis, Recurrent otitis... |
OMIM:613501 |
Eosinophilia, Familial |
|
Anemia, Recurrent bronchitis, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Bleeding Disorder, Platelet-Type, 21 |
|
Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Recurrent viral infecti... |
OMIM:617443 |
Specific Granule Deficiency 1 |
|
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Recurrent bacterial i... |
OMIM:245480 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... |
OMIM:155100 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... |
OMIM:300835 |
Immunodeficiency, Common Variable, 3 |
|
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... |
OMIM:613493 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune thrombocytopenia, Impaired Ig class switch recombination, Autoimmune hemolytic anemia,... |
OMIM:608184 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Defective T cell proliferation, Decreased proportion of CD8... |
OMIM:614493 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... |
OMIM:611521 |
Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation |
OMIM:609821 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Recurrent upp... |
OMIM:605258 |
Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus ... |
OMIM:613953 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Recurrent otitis media, Recurrent pn... |
OMIM:613502 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Immunodeficiency 46 |
|
Anemia, Chronic oral candidiasis, Decreased circulating antibody level, Recurrent sinopulmonary i... |
OMIM:616740 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Prolonged blee... |
OMIM:314050 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... |
OMIM:613494 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia |
OMIM:604498 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgE, Recurrent bacterial infections... |
OMIM:606843 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Absence of CD8-positive T cells, Recurrent respiratory infections... |
OMIM:608957 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Increased circulating antibody level, Recurrent infections, Extramedullary he... |
OMIM:615285 |
Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Abnormal platelet aggregation |
OMIM:614171 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... |
OMIM:619374 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Recurrent ... |
OMIM:613101 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal alpha granule content, Impaired platelet aggregation, Abnormal dense granule content, Pr... |
OMIM:601399 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia |
OMIM:133180 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, De... |
OMIM:607616 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Recurrent bronchi... |
OMIM:612692 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
T lymphocytopenia, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positi... |
ORPHA:572 |
Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Prolonged blee... |
OMIM:139090 |
Malaria |
|
Elevated circulating C-reactive protein concentration, Anemia, Thrombocytopenia, Hyperbilirubinemia |
ORPHA:673 |
Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... |
OMIM:607624 |
Refractory Anemia |
|
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... |
ORPHA:98826 |
Immunodeficiency, Common Variable, 13 |
|
B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Pancytopen... |
OMIM:616873 |
Immunodeficiency 61 |
|
Decreased circulating total IgM, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent... |
OMIM:300310 |
Immunodeficiency 84 |
|
Persistent EBV viremia, Recurrent bacterial infections, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... |
OMIM:613860 |
Immunodeficiency 31A |
|
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... |
OMIM:614892 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Chronic infection, Norm... |
ORPHA:75564 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity |
OMIM:615715 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Prolonged bleeding time, Macrothrombocytopenia, Impaired risto... |
OMIM:231200 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Severe Epstein Barr virus infection, Infectious encephalitis, Recurrent respiratory infections, R... |
OMIM:308240 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Thrombocytopenia, Macrothrombocytopenia |
OMIM:616176 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Recurrent bacterial infections, Thromb... |
OMIM:603585 |
Sitosterolemia 1 |
|
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Impaired platelet aggreg... |
OMIM:210250 |
Von Willebrand Disease, Type 3 |
|
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation |
OMIM:277480 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... |
OMIM:619041 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Immunodeficiency 32B |
|
Abnormal circulating IgG level, Anemia, Monocytopenia, BCGitis, Neutrophilia, Recurrent infection... |
OMIM:226990 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent upper and lower respiratory tract infections, Impaired Ig class switch recombination, R... |
OMIM:608106 |
Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation |
OMIM:605735 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time |
OMIM:614158 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... |
OMIM:607594 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Persistent EBV viremia, Decreased circulating antibody level, Pancytopenia, A... |
OMIM:613011 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
Whim Syndrome 1 |
|
Decreased circulating antibody level, Recurrent bacterial infections, Recurrent upper respiratory... |
OMIM:193670 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Recurrent bacterial infections, Abnormal neutrophil count, Helicobact... |
ORPHA:2688 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Increased RBC distribut... |
OMIM:187900 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent... |
OMIM:240500 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent opportunistic infections, Recurrent urinary tract infections, Increased circulating ino... |
OMIM:613179 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia |
OMIM:141000 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Decreased circulating antibody level, Recurrent sinopulmonary infections, Recurrent sinusitis, Au... |
OMIM:616576 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... |
ORPHA:766 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
Hermansky-Pudlak Syndrome 3 |
|
Abnormal number of dense granules, Impaired platelet aggregation |
OMIM:614072 |
Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:615193 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hemophagocytosis, Thr... |
OMIM:603552 |
Bare Lymphocyte Syndrome, Type Ii |
|
Panhypogammaglobulinemia, Recurrent urinary tract infections, Chronic mucocutaneous candidiasis, ... |
OMIM:209920 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Immunodeficiency, Common Variable, 6 |
|
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... |
OMIM:613496 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent opportunistic infections, Reduced natural killer cell count, Recurrent bacterial skin i... |
ORPHA:276 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... |
OMIM:153670 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal natural killer cell count, Recurrent enteroviral infections, Decreased circulating total... |
ORPHA:331206 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Elevated circulating alpha-fetoprotein concentration, Bone marrow hypocellularity, Thromb... |
OMIM:617243 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Recurrent viral infections, Severe B lymphoc... |
OMIM:603554 |
Thymic Aplasia |
|
Hypocalcemic tetany, Opportunistic infection, T lymphocytopenia, Invasive fungal infection, Recur... |
ORPHA:83471 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Pneumocystis jirovecii pneumonia, Recurrent bacterial infections... |
OMIM:300636 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Neutropenia, Monocytopenia |
ORPHA:86788 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Pancytopenia, Lymphopenia,... |
ORPHA:859 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:614076 |
Thrombocytopenia, Paris-Trousseau Type |
|
Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Recurrent infections, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic ... |
OMIM:229050 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Disseminated molluscum contagiosum, Decreased circulating tota... |
OMIM:243700 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Recurrent viral infections, Recurrent bacterial infec... |
OMIM:618048 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent bacterial skin ... |
ORPHA:911 |
Slc35A1-Cdg |
|
Abnormal platelet granules, Giant platelets, Prolonged bleeding time, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent opportunistic infections, Chronic oral candidiasis,... |
ORPHA:275 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections |
OMIM:612783 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Anemia, Reduced natural killer cell activity, Pancytopenia, In... |
OMIM:616050 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Specific Granule Deficiency 2 |
|
Anemia, Absent neutrophil specific granules, Recurrent otitis media, Recurrent pneumonia, Recurre... |
OMIM:617475 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Recurrent bacterial infections, Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells |
OMIM:619693 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
Chédiak-Higashi Syndrome |
|
Hepatosplenomegaly, Recurrent staphylococcal infections, Hyponatremia, Thrombocytopenia, Abnormal... |
ORPHA:167 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Coccidioidomycosis, Severe toxoplasmosis, Tegumentary leishma... |
ORPHA:319552 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis |
OMIM:613779 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Meningitis, Thrombocytopenia, Impaired memory B cell generation, Splenomegaly, Sepsis, Decreased ... |
OMIM:308230 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormality of thrombocytes, Anemia, Hepatosplenomegaly, Recurrent bacterial infections, Leukocyt... |
OMIM:612840 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent fungal infections, Recurrent mycobacterial infections, Hemolytic anemia, Recurrent vira... |
ORPHA:169090 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Invasive fungal ... |
ORPHA:158048 |
Storage Pool Platelet Disease |
|
Prolonged bleeding time, Decreased mean platelet volume |
OMIM:185050 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent EBV viremia, Chronic lymphatic leukemia, Increased proportion of transitional B cells,... |
OMIM:616005 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... |
OMIM:159550 |
Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Neutropenia, Acute lymphoblastic leukemia |
OMIM:610738 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Infectious encephalitis, Increased VLDL cholestero... |
OMIM:267700 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Hypocholesterolemia, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... |
OMIM:619802 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Absent plat... |
OMIM:614074 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:616435 |
Isolated Agammaglobulinemia |
|
Anemia, Sepsis, Abnormality of neutrophils, Recurrent cutaneous abscess formation, Meningitis, Th... |
ORPHA:229717 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Persistent EBV viremia, Hypert... |
ORPHA:158057 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Chronic infection, Abnormal m... |
ORPHA:86839 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, B lymphocytopenia, Pneumocystis jirovecii pneumonia, Recurrent otitis m... |
OMIM:301078 |
Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Increased circulating IgE level, Transient neutropenia, Recu... |
OMIM:607676 |
Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
Idiopathic Aplastic Anemia |
|
Anemia, Reticulocytopenia, Pancytopenia, Recurrent infections, Bone marrow hypocellularity, Throm... |
ORPHA:88 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, B lymphocytopenia, Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurre... |
OMIM:150550 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Factor V Deficiency |
|
Prolonged bleeding time, Prolonged prothrombin time |
OMIM:227400 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Chr... |
OMIM:608233 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Hyperammonemia, Thrombocytopenia, Neutropenia, Sepsis |
ORPHA:289916 |
Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Recurrent sinusitis, Decreased proportion of CD4-positive T c... |
ORPHA:331235 |
Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Von Willebrand Disease, Type 1 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:193400 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly |
OMIM:615010 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent ear infections, Acute myeloid leukemia, Acute lymphoblastic leukemia, Recurrent sinopul... |
ORPHA:486 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocy... |
ORPHA:3226 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Acquired Purpura Fulminans |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Prolonged prothrombin ti... |
ORPHA:49566 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Panhypogammaglobulinemia, Recurrent respiratory infections, B lymphocytopenia, Decreased circulat... |
OMIM:601495 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Babesiosis |
|
Leukopenia, Hemolytic anemia, Recurrent pharyngitis, Recurrent infections, Thrombocytopenia, Sple... |
ORPHA:108 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Infectious encephalitis, Reduced natural killer ce... |
OMIM:603553 |
Transaldolase Deficiency |
|
Anemia, Hepatosplenomegaly, Increased serum bile acid concentration, Abnormal circulating glutami... |
ORPHA:101028 |
Complement Factor B Deficiency |
|
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis |
OMIM:615561 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Decreased serum thromboxane B2, Impaired platelet aggregation, Iron deficiency anemia, Abnormal c... |
OMIM:618372 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Severe varicella zoster infection, Hemolytic anemia, T lymphocytopenia, ... |
OMIM:606367 |
Hermansky-Pudlak Syndrome 6 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules |
OMIM:614075 |
Myh9-Related Disease |
|
Giant platelets, Prolonged bleeding time, Congenital thrombocytopenia, Neutrophil inclusion bodie... |
ORPHA:182050 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... |
OMIM:616689 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia |
OMIM:598500 |
Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Increased circulating antibody level, Pancyto... |
ORPHA:507 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Leukemia, Pancytopenia, Hypoplastic anemia |
OMIM:194350 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Chronic mucocutaneous candidiasis, Recurrent staphy... |
OMIM:116920 |
Thrombotic Thrombocytopenic Purpura |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis |
ORPHA:54057 |
Wiskott-Aldrich Syndrome |
|
Anemia, Sepsis, Hypoplasia of the thymus, Hemolytic anemia, Recurrent respiratory infections, Abn... |
ORPHA:906 |
Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Mic... |
ORPHA:848 |
Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Neutrophilia, Prolonged prothrombin time, Leukocyt... |
ORPHA:91547 |
Immunodeficiency 91 And Hyperinflammation |
|
Extrapulmonary tuberculosis, Neutrophilia, Severe viral infection, Hepatosplenomegaly, BCGosis, R... |
OMIM:619644 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Thrombocytopenia, Sideroblastic anemia |
OMIM:617021 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Thrombocytopenia, Helicobacter pylori infection |
ORPHA:275555 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Prolonged prothrombin time, Recurrent infe... |
ORPHA:64743 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:2123 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, B lymphocytopenia, Absent specific antibody response, Decreased ... |
OMIM:102700 |
Felty Syndrome |
|
Anemia, Sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent p... |
ORPHA:47612 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent Staphylococcus aureus infections, Recurrent sinopulmonary infections, Chronic mucocutan... |
OMIM:147060 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia, Elevated circulating creatine kinase concentration |
OMIM:614727 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Impaired ristocetin-induced plate... |
ORPHA:274 |
Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612924 |
Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Elevated circulating hepcidin concentration, Poikilo... |
OMIM:206200 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612926 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent ear infections, Abnormal natural killer cell count, Anemia, Panhypogammaglobulinemia, T... |
ORPHA:79124 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Refractory anemia |
OMIM:231095 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Recurrent opportunistic infections, Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia |
OMIM:613987 |
Intermediate Osteopetrosis |
|
Anemia, Chronic infection, Hypocalcemia, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:210110 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Hyperammonemia, Macrocytic anemia, Thrombocytopenia |
ORPHA:27 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Recurrent urinary tract infections, Decreased circulating antibody level, P... |
ORPHA:90045 |
Immunodeficiency 22 |
|
Anemia, Chronic oral candidiasis, Decreased circulating total IgM, Decreased circulating IgE, Rec... |
OMIM:615758 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
X-Linked Agammaglobulinemia |
|
Anemia, Hypocalcemia, Recurrent cutaneous abscess formation, Recurrent pneumonia, Agammaglobuline... |
ORPHA:47 |
Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent res... |
ORPHA:100026 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:619151 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Enteroviral dermatomyositis syndrome, Panhypogammaglobulinemia, Recurrent urinary tract infection... |
OMIM:307200 |
Pgm3-Cdg |
|
T lymphocytopenia, Reduced antigen-specific T cell proliferation, Bone marrow hypocellularity, Eo... |
ORPHA:443811 |
Drug-Induced Lupus Erythematosus |
|
Anemia, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevat... |
ORPHA:231111 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... |
OMIM:233710 |
Cog4-Cdg |
|
Neonatal sepsis, Hepatosplenomegaly, Recurrent upper respiratory tract infections, Hypercholester... |
ORPHA:263501 |
Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Increased circulating ferritin ... |
ORPHA:158061 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Hyperammonemia, Thrombocytopenia, Neutropenia, Splenomegaly |
ORPHA:79312 |
Wiskott-Aldrich Syndrome |
|
Recurrent sinusitis, Eosinophilia, Decreased proportion of CD4-positive helper T cells, Prolonged... |
OMIM:301000 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... |
OMIM:603909 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612925 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
Hermansky-Pudlak Syndrome 11 |
|
Impaired collagen-induced platelet aggregation, Reduced platelet dense granules |
OMIM:619172 |
Congenital Enterovirus Infection |
|
Leukopenia, Anemia, Infectious encephalitis, Abnormal macrophage morphology, Hyperammonemia, Meni... |
ORPHA:292 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, Decreased circulating total IgM, B lymphocytopenia, Decreased specific antib... |
OMIM:614700 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... |
ORPHA:35858 |
3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... |
OMIM:233690 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Recurrent respiratory infections, Recurrent lower r... |
OMIM:612541 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Thrombocytopenia, Increased circulating ferritin concentration, Bone marrow hypocellularity, Hepa... |
ORPHA:210136 |
Isovaleric Acidemia |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia |
OMIM:243500 |
Immunodeficiency 40 |
|
Severe varicella zoster infection, T lymphocytopenia, Chronic oral candidiasis, Reduced antigen-s... |
OMIM:616433 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent shingles, Decreased circulating IgG level, Severe infection, Decreased specific pneumoc... |
ORPHA:183675 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Severe infection, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinoph... |
OMIM:304790 |
Mirage Syndrome |
|
Leukopenia, Anemia, Recurrent urinary tract infections, Hyperkalemia, Lymphopenia, Recurrent bact... |
OMIM:617053 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Hyponatremia, Thr... |
OMIM:613845 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Thrombocytopenia, Splenomegaly, Reticulocytosis |
OMIM:611490 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
Autoerythrocyte Sensitization Syndrome |
|
Abnormal erythrocyte morphology, Impaired platelet adhesion, Thrombocytosis, Autoimmune thrombocy... |
ORPHA:324636 |
Aicardi-Goutieres Syndrome 4 |
|
Thrombocytopenia, Splenomegaly, Pancytopenia, Hepatosplenomegaly |
OMIM:610333 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Anemia |
ORPHA:858 |
Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Recurrent otitis media, Giant ... |
OMIM:169400 |
Immunodeficiency 23 |
|
Persistent EBV viremia, Severe varicella zoster infection, Hemolytic anemia, Recurrent respirator... |
OMIM:615816 |
Tularemia |
|
Anemia, Brain abscess, Increased circulating antibody level, Meningitis, Leukocytosis, Thrombocyt... |
ORPHA:3392 |
Primary Myelofibrosis |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedu... |
ORPHA:824 |
Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
Portal Hypertension, Noncirrhotic, 2 |
|
Thrombocytopenia, Recurrent infections, Splenomegaly |
OMIM:619463 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
Gaucher Disease, Type Iii |
|
Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:231000 |
Chediak-Higashi Syndrome |
|
Recurrent systemic pyogenic infections, Leukopenia, Anemia, Recurrent bacterial skin infections, ... |
OMIM:214500 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Hypoamylasemia, Imp... |
ORPHA:811 |
Systemic Lupus Erythematosus |
|
Leukopenia, Thrombocytopenia, Hemolytic anemia |
OMIM:152700 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Anemia, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Hypertriglyceridemia, Infectious encephalitis, Reduced natural killer cell activity, Decr... |
ORPHA:540 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time |
ORPHA:1059 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Elevated circulating propionylcar... |
OMIM:614857 |
Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
Immunodeficiency 47 |
|
Leukopenia, Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased c... |
OMIM:300972 |
Cyclic Neutropenia |
|
Opportunistic infection, Severe infection, Decreased eosinophil count, Lymphopenia, Cyclic neutro... |
ORPHA:2686 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia |
OMIM:613839 |
Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
Prothrombin Deficiency, Congenital |
|
Prolonged bleeding time, Prolonged prothrombin time |
OMIM:613679 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... |
OMIM:235400 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time |
ORPHA:638 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Reduced natural killer cell activity, Recurrent bacterial infecti... |
OMIM:300291 |
Good Syndrome |
|
Anemia, Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulati... |
ORPHA:169105 |
Prolidase Deficiency |
|
Anemia, Increased circulating antibody level, Recurrent pneumonia, Recurrent infections, Thromboc... |
OMIM:170100 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Anemia, Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Hyperhomocystinemia, Panc... |
OMIM:277380 |
Sickle Cell Disease |
|
Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Recurrent bacterial infections,... |
OMIM:603903 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thromb... |
OMIM:185070 |
Avian Influenza |
|
Leukopenia, Infectious encephalitis, Lymphopenia, Elevated circulating creatine kinase concentrat... |
ORPHA:454836 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... |
OMIM:274150 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Increased circulating antibody level, Lymphopenia, Recurrent infections, Thrombocytopenia... |
OMIM:617591 |
Complement Component 5 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:609536 |
Essential Thrombocythemia |
|
Prolonged bleeding time, Abnormal platelet morphology, Abnormality of thrombocytes |
ORPHA:3318 |
Methylmalonic Aciduria, Cblb Type |
|
Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, ... |
OMIM:251110 |
Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
Mevalonic Aciduria |
|
Anemia, Increased circulating IgD level, Hepatosplenomegaly, Elevated circulating creatine kinase... |
OMIM:610377 |
Pseudo-Torch Syndrome 3 |
|
Anemia, Congenital thrombocytopenia, Increased circulating ferritin concentration, Leukocytosis |
OMIM:618886 |
Propionic Acidemia |
|
Anemia, Hyperglycinemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, Neutropenia |
OMIM:606054 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Elevated creatine k... |
ORPHA:99901 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Recu... |
OMIM:617303 |
Griscelli Syndrome |
|
Leukopenia, Abnormal circulating lipid concentration, Decreased circulating antibody level, Abnor... |
ORPHA:381 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Impaired T cell function, Recur... |
OMIM:614576 |
Aggressive Systemic Mastocytosis |
|
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased proportion of CD25+ mast cells... |
ORPHA:98850 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Thrombocytopenia, Anemia, Hypoalbuminemia |
OMIM:608104 |
Complement Factor I Deficiency |
|
Recurrent Haemophilus influenzae infections, Recurrent urinary tract infections, Recurrent mening... |
OMIM:610984 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
Methylmalonic Aciduria, Cbla Type |
|
Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, ... |
OMIM:251100 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Hyperammonemia, Thrombocytopenia, Neutropenia |
OMIM:251000 |
Congenital Rubella Syndrome |
|
Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:290 |
Leukocyte Adhesion Deficiency |
|
Recurrent fungal infections, Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary ... |
ORPHA:2968 |
Neonatal Lupus Erythematosus |
|
Anemia, Neutropenia, Hemolytic anemia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Splenomegaly |
ORPHA:398124 |
Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Hypersplenism, Hepatosplenomegaly, Increased LDL cholesterol concentration, D... |
OMIM:278000 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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Recurrent ear infections, Abnormal T cell subset distribution, Reduced natural killer cell count,... |
ORPHA:221139 |
Braddock-Carey Syndrome 2 |
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Thrombocytopenia |
OMIM:619981 |
Immune Thrombocytopenia |
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Thrombocytopenia |
ORPHA:3002 |
Immunodeficiency 87 And Autoimmunity |
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Recurrent fungal infections, Persistent EBV viremia, Hypertriglyceridemia, Decreased CD4:CD8 rati... |
OMIM:619573 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Lymphocytosis, Recurrent pneumonia, Meningitis, Recurrent infections, Elevated circulating C-reac... |
OMIM:617718 |
Shwachman-Diamond Syndrome 2 |
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Normocytic anemia, Recurrent infections, Prolonged prothrombin time, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Bacterial Toxic-Shock Syndrome |
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Severe varicella zoster infection, Infectious encephalitis, Severe infection, Recurrent urinary t... |
ORPHA:36234 |
Thrombocytopenia 3 |
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Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Stt3B-Cdg |
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Thrombocytopenia |
ORPHA:370924 |
Letterer-Siwe Disease |
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Thrombocytopenia, Anemia, Neutropenia, Hepatosplenomegaly |
OMIM:246400 |
Osteopetrosis, Autosomal Recessive 2 |
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Anemia, Pancytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:259710 |
Granulomatous Disease, Chronic, X-Linked |
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Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... |
OMIM:306400 |
Vexas Syndrome |
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Thrombocytopenia, Elevated circulating C-reactive protein concentration, Macrocytic anemia |
OMIM:301054 |
Acute Promyelocytic Leukemia |
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Leukopenia, Anemia, Chronic infection, Pancytopenia, Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:520 |
Dengue Fever |
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Leukopenia, Thrombocytopenia, Hypoproteinemia |
ORPHA:99828 |
Congenital Disorder Of Glycosylation, Type Ix |
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Thrombocytopenia |
OMIM:615597 |
Sepsis In Premature Infants |
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Anemia, Severe infection, Neonatal sepsis, Disseminated viral infection, Meningitis, Elevated cir... |
ORPHA:90051 |
Kasabach-Merritt Syndrome |
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Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Prolonged prothrombin tim... |
ORPHA:2330 |
Zika Virus Disease |
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Infectious encephalitis, Thrombocytopenia, Meningitis, Increased circulating IgM level |
ORPHA:448237 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Recurrent upper respirator... |
ORPHA:508542 |
Diffuse Alveolar Hemorrhage |
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Anemia, Thrombocytopenia, Elevated circulating creatinine concentration, Leukocytosis |
ORPHA:90060 |
Vici Syndrome |
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Leukopenia, T lymphocytopenia, Recurrent respiratory infections, Decreased T cell activation, Dec... |
OMIM:242840 |
Hermansky-Pudlak Syndrome 8 |
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Impaired platelet aggregation |
OMIM:614077 |
Lysinuric Protein Intolerance |
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Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Increased serum zinc, Hyperalaninemia... |
ORPHA:470 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Hypochromic microcytic anemia, Thrombocytopenia, Increased circulating ferritin concentration |
ORPHA:3240 |
Fetal Gaucher Disease |
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Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Pancytopenia |
ORPHA:85212 |
Overlap Myositis |
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Leukopenia, Abnormal circulating lipid concentration, Severe infection, Elevated circulating crea... |
ORPHA:206572 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
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Thrombocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia |
OMIM:614520 |
3-Methylglutaconic Aciduria, Type Viib |
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Leukopenia, Recurrent pneumonia, Recurrent infections, Prolonged prothrombin time, Thrombocytopen... |
OMIM:616271 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Anemia, Elevated circulating creatine kinase concentration, Recurrent bacterial infections, Hypop... |
OMIM:615895 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
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Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Schimke Immunoosseous Dysplasia |
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Anemia, Abnormal T cell morphology, Decreased circulating antibody level, Lymphopenia, Pancytopen... |
OMIM:242900 |
Alg12-Cdg |
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Recurrent ear infections, Abnormal circulating IgG level, Partial absence of specific antibody re... |
ORPHA:79324 |
Shwachman-Diamond Syndrome 1 |
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Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Recurrent infections, ... |
OMIM:260400 |
Necrotizing Enterocolitis |
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Neonatal sepsis, Leukocytosis, Hyponatremia, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
Pearson Marrow-Pancreas Syndrome |
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Anemia, Reticulocytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Sideroblastic ane... |
OMIM:557000 |
Schimke Immuno-Osseous Dysplasia |
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Anemia, Lymphopenia, Impaired T cell function, Recurrent infections, Bone marrow hypocellularity,... |
ORPHA:1830 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Hyperammonemia |
ORPHA:79242 |
Pseudohypoparathyroidism Type 1A |
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Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Abnormal platelet function, Hypocalcemic seiz... |
ORPHA:79443 |
Lig4 Syndrome |
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Thrombocytopenia, Pancytopenia |
OMIM:606593 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
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Amegakaryocytic thrombocytopenia, Congenital thrombocytopenia, Aplastic anemia |
OMIM:605432 |
Mgat2-Cdg |
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Decreased circulating antibody level, Impaired platelet aggregation, Decreased circulating IgG level |
ORPHA:79329 |
Osteopetrosis, Autosomal Recessive 1 |
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Anemia, Hypocalcemia, Pancytopenia, Thrombocytopenia, Splenomegaly |
OMIM:259700 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Thrombocytopenia 1 |
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Increased circulating IgE level, Increased circulating IgA level, Congenital thrombocytopenia, De... |
OMIM:313900 |
Gaucher Disease, Type I |
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Anemia, Hypersplenism, Pancytopenia, Thrombocytopenia, Splenomegaly |
OMIM:230800 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Thrombocytopenia, Normochromic anemia, Elevated circulating creatine kinase concentration |
OMIM:618775 |
Boutonneuse Fever |
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Leukopenia, Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level |
ORPHA:83313 |
Wolfram Syndrome 1 |
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Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia |
OMIM:222300 |
Postinfectious Vasculitis |
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Recurrent mycobacterial infections, Severe Epstein Barr virus infection, Severe varicella zoster ... |
ORPHA:48435 |
Whim Syndrome |
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Abnormality of neutrophil morphology, Decreased circulating antibody level, Lymphopenia, Recurren... |
ORPHA:51636 |
Ebola Hemorrhagic Fever |
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Leukopenia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia, Sepsis |
ORPHA:319218 |
Transaldolase Deficiency |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly |
OMIM:606003 |
Alg8-Cdg |
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Thrombocytopenia, Anemia, Hyponatremia |
ORPHA:79325 |
Hoyeraal-Hreidarsson Syndrome |
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Thrombocytopenia, Abnormal leukocyte morphology, Bone marrow hypocellularity, Anemia |
ORPHA:3322 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Infectious encephalitis, T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-ne... |
ORPHA:391487 |
Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
Combined Oxidative Phosphorylation Deficiency 55 |
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Anemia, Hypophosphatemia, Elevated circulating creatine kinase concentration, Mildly elevated cre... |
OMIM:619743 |
Snakebite Envenomation |
|
Thrombocytopenia, Hyponatremia |
ORPHA:449285 |
Hemophilia B |
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Prolonged bleeding time |
ORPHA:98879 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
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Thrombocytopenia, Leukocytosis, Hyponatremia |
ORPHA:83601 |
Hellp Syndrome |
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Hemolytic anemia, Microangiopathic hemolytic anemia, Decreased mean corpuscular hemoglobin concen... |
ORPHA:244242 |
Congenital Erythropoietic Porphyria |
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Reduced haptoglobin level, Leukopenia, Recurrent bacterial skin infections, Abnormal circulating ... |
ORPHA:79277 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia, Elevated hepatic iron concentration |
OMIM:614946 |
Blue Rubber Bleb Nevus |
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Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Leukopenia, Anemia, Lymphopenia, Bone marrow hypocellularity, Increased mean corpuscular volume, ... |
OMIM:127550 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Recurrent bacterial infections, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Reticulocytosis,... |
ORPHA:90038 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
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Leukopenia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Aplastic anemia, Neutrop... |
OMIM:613989 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Increased circulating antibody level, Hypersplenism, Pancytopenia, Thrombocyt... |
ORPHA:77259 |
Wilson Disease |
|
Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:905 |
Noonan Syndrome |
|
Abnormality of the spleen, Abnormal platelet function |
ORPHA:648 |
Smith-Kingsmore Syndrome |
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Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Hyperbilirubinemia, Hypocalcemia, Pancytopenia, Hepatosplenomegaly, Hypochromic microcyti... |
OMIM:259720 |
Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Meningitis, Splenomegaly |
ORPHA:36412 |
Idiopathic Bronchiectasis |
|
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Recurrent infections, Anemia, Giant platelets |
OMIM:611209 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Anemia, Recurrent gastroenteritis, Hepatosplenomegaly, Bone marrow hypocellularity, I... |
ORPHA:505248 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinas... |
ORPHA:94093 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Splen... |
OMIM:251880 |
Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
Fanconi Anemia, Complementation Group E |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:600901 |
Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive protein conc... |
ORPHA:160 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Vacuolated lymphocytes, Splenomegaly, Decreased circulating antib... |
OMIM:248500 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Unconjugated hyperbilirubinemia,... |
ORPHA:447 |
Nijmegen Breakage Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Recurrent urinary tract infections, Recurrent bronchitis, R... |
OMIM:251260 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia, Normochromic anemia, Hypoalbuminemia |
OMIM:254900 |
Gaucher Disease, Type Ii |
|
Thrombocytopenia, Bronchiolitis, Splenomegaly, Anemia |
OMIM:230900 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Thrombocytopenia, Elevated circulating creatine kinase concentration |
OMIM:301056 |
Fanconi Anemia, Complementation Group A |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:227650 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Hyperammonemia |
OMIM:253270 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... |
ORPHA:124 |
Shigellosis |
|
Microangiopathic hemolytic anemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, ... |
ORPHA:810 |
Lysinuric Protein Intolerance |
|
Leukopenia, Anemia, Intraalveolar phospholipid accumulation, Increased circulating ferritin conce... |
OMIM:222700 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Aplastic anemia |
OMIM:613990 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|