SE-ATLAS

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