SE-ATLAS

Combined immunodeficiency due to DOCK8 deficiency Thiamine-responsive megaloblastic anemia syndrome Combined immunodeficiency due to LRBA deficiency Severe combined immunodeficiency due to adenosine deaminase deficiency Hepatic veno-occlusive disease-immunodeficiency syndrome Activated PI3K-delta syndrome Combined immunodeficiency-enteropathy spectrum Glutathione synthetase deficiency Immunodeficiency by defective expression of MHC class I X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Hereditary elliptocytosis Autoimmune thrombocytopenia Common variable immunodeficiency Pancytopenia due to IKZF1 mutations X-linked sideroblastic anemia Transient erythroblastopenia of childhood Combined immunodeficiency due to OX40 deficiency Beta-thalassemia major X-linked agammaglobulinemia Laron syndrome with immunodeficiency Congenital dyserythropoietic anemia type I Beta-thalassemia intermedia Hereditary spherocytosis Genetic polycythemia Congenital dyserythropoietic anemia type III 22q11.2 deletion syndrome Delta-beta-thalassemia Congenital dyserythropoietic anemia type II Primary myelofibrosis Primary acquired pure red cell aplasia Dominant beta-thalassemia IRIDA syndrome Unstable hemoglobin disease Familial thrombocytosis Combined immunodeficiency due to STK4 deficiency Autoimmune hemolytic anemia Hemoglobin C-beta-thalassemia syndrome Severe combined immunodeficiency due to LCK deficiency Reticular dysgenesis Congenital intrinsic factor deficiency Alpha-thalassemia Beta-thalassemia Autosomal recessive secondary polycythemia not associated with VHL gene Hemoglobin E-beta-thalassemia syndrome Congenital dyserythropoietic anemia Atypical hemolytic uremic syndrome Transcobalamin deficiency Ataxia-telangiectasia Class I glucose-6-phosphate dehydrogenase deficiency Hereditary methemoglobinemia Combined immunodeficiency due to CARD11 deficiency Combined immunodeficiency due to CD3gamma deficiency Netherton syndrome Diamond-Blackfan anemia Bloom syndrome Severe combined immunodeficiency due to CORO1A deficiency X-linked hyper-IgM syndrome Primary familial polycythemia Paroxysmal nocturnal hemoglobinuria Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Constitutional dyserythropoietic anemia Severe combined immunodeficiency due to complete RAG1/2 deficiency T-B+ severe combined immunodeficiency due to CD45 deficiency X-linked dyserythropoietic anemia with abnormal platelets and neutropenia T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta Congenital secondary polycythemia Autosomal recessive sideroblastic anemia Polycythemia vera Sickle cell-beta-thalassemia disease syndrome Chuvash erythrocytosis Sickle cell-hemoglobin C disease syndrome Sickle cell anemia T-B+ severe combined immunodeficiency due to JAK3 deficiency Sickle cell-hemoglobin D disease syndrome X-linked sideroblastic anemia and spinocerebellar ataxia Essential thrombocythemia Hemolytic anemia due to red cell pyruvate kinase deficiency Imerslund-Gräsbeck syndrome Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency Schimke immuno-osseous dysplasia Severe combined immunodeficiency due to DCLRE1C deficiency T-B+ severe combined immunodeficiency due to gamma chain deficiency Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency TCR-alpha-beta-positive T-cell deficiency RIDDLE syndrome X-linked lymphoproliferative disease Wiskott-Aldrich syndrome Combined immunodeficiency due to ZAP70 deficiency Combined immunodeficiency due to CD27 deficiency T-cell immunodeficiency with epidermodysplasia verruciformis Susceptibility to infection due to TYK2 deficiency Dyskeratosis congenita Combined immunodeficiency due to STIM1 deficiency Purine nucleoside phosphorylase deficiency Susceptibility to respiratory infections associated with CD8alpha chain mutation Omenn syndrome Severe combined immunodeficiency due to FOXN1 deficiency Nijmegen breakage syndrome Combined immunodeficiency due to MALT1 deficiency CHARGE syndrome Immunoglobulin heavy chain deficiency Cartilage-hair hypoplasia Hereditary folate malabsorption Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Ataxia-telangiectasia-like disorder ICF syndrome Severe combined immunodeficiency due to IKK2 deficiency Hyper-IgM syndrome type 3 Combined immunodeficiency due to ORAI1 deficiency Leukocyte adhesion deficiency type III Persistent polyclonal B-cell lymphocytosis Shwachman-Diamond syndrome Aicardi-Goutières syndrome Autoimmune lymphoproliferative syndrome with recurrent viral infections Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Muckle-Wells syndrome Monocytopenia with susceptibility to infections DITRA Hermansky-Pudlak syndrome Syndromic multisystem autoimmune disease due to Itch deficiency Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Familial Mediterranean fever Hyperimmunoglobulinemia D with periodic fever Glycogen storage disease due to glucose-6-phosphatase deficiency Barth syndrome Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency FADD-related immunodeficiency Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Poikiloderma with neutropenia X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency Recurrent infections associated with rare immunoglobulin isotypes deficiency Chronic granulomatous disease Autoimmune polyendocrinopathy type 1 Cyclic neutropenia Spondylometaphyseal dysplasia with combined immunodeficiency Predisposition to invasive fungal disease due to CARD9 deficiency CANDLE syndrome Susceptibility to viral and mycobacterial infections due to STAT1 deficiency Herpes simplex virus encephalitis Immunodeficiency due to CD25 deficiency Bacterial susceptibility due to TLR signaling pathway deficiency Kostmann syndrome Chédiak-Higashi syndrome CINCA syndrome Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Transient hypogammaglobulinemia of infancy Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome WHIM syndrome Recurrent infection due to specific granule deficiency Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Congenital neutropenia-myelofibrosis-nephromegaly syndrome Autoimmune lymphoproliferative syndrome Tumor necrosis factor receptor 1 associated periodic syndrome Sterile multifocal osteomyelitis with periostitis and pustulosis Cohen syndrome Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency Familial cold urticaria Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Hyper-IgM syndrome type 2 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells Blau syndrome Hyper-IgM syndrome type 5 X-linked severe congenital neutropenia Familial isolated congenital asplenia Autosomal dominant severe congenital neutropenia Majeed syndrome Susceptibility to localized juvenile periodontitis Hypohidrotic ectodermal dysplasia with immunodeficiency Leukocyte adhesion deficiency type II Leukocyte adhesion deficiency type I Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome PAPA syndrome Familial hemophagocytic lymphohistiocytosis Hereditary stomatocytosis Rare aplastic anemia Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Adult-onset autosomal recessive sideroblastic anemia Autosomal dominant secondary polycythemia Immunodeficiency predominantly affecting antibody production Quantitative and/or qualitative congenital phagocyte defect Primary immunodeficiency due to a defect in innate immunity Severe combined immunodeficiency Polycythemia Autoinflammatory syndrome of childhood Immune dysregulation disease with immunodeficiency Syndrome with combined immunodeficiency Fanconi anemia Rare anemia