SE-ATLAS

Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder 16q24.1 microdeletion syndrome Acute lung injury Primary interstitial lung disease specific to childhood Autoimmune pulmonary alveolar proteinosis Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder Pigeon-breeder lung disease Bleeding disorder in hemophilia A carriers House allergic alveolitis Bleeding disorder in hemophilia B carriers Allergic bronchopulmonary aspergillosis Meconium aspiration syndrome Infant acute respiratory distress syndrome Hereditary angioedema type 2 Tracheobronchopathia osteochondroplastica Infantile apnea Hereditary angioedema type 1 Primary interstitial lung disease specific to childhood due to alveolar structure disorder Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Congenital alveolar capillary dysplasia Acquired angioedema type 2 Renin-angiotensin-aldosterone system-blocker-induced angioedema Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease Acquired angioedema type 1 Von Willebrand disease Isolated pulmonary capillaritis Von Willebrand disease type 2 Von Willebrand disease type 1 Idiopathic pulmonary hemosiderosis Secondary pulmonary hemosiderosis Congenital chylothorax Staphylococcal necrotizing pneumonia Congenital diaphragmatic hernia Von Willebrand disease type 2A Congenital pulmonary lymphangiectasia Heiner syndrome Secondary interstitial lung disease specific to childhood associated with a systemic disease Sickle cell anemia Hypersensitivity pneumonitis Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome Combined pulmonary fibrosis-emphysema syndrome Idiopathic interstitial pneumonia Interstitial lung disease specific to infancy Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease Nijmegen breakage syndrome Von Willebrand disease type 2B Drug or radiation exposure-related interstitial lung disease Von Willebrand disease type 2M Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis Primary ciliary dyskinesia Primary ciliary dyskinesia-retinitis pigmentosa syndrome Secondary interstitial lung disease specific to childhood associated with a connective tissue disease Von Willebrand disease type 3 Syndromic multisystem autoimmune disease due to Itch deficiency Secondary interstitial lung disease specific to childhood associated with a granulomatous disease Non-histaminic angioedema Chronic pneumonitis of infancy Sarcoidosis Yellow nail syndrome Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome Severe hemophilia B Rare allergic respiratory disease Idiopathic pulmonary fibrosis Moderate hemophilia B Secondary interstitial lung disease specific to childhood associated with a metabolic disease Severe hemophilia A Mild hemophilia B Hemophilia A Moderate hemophilia A Hereditary angioedema Mild hemophilia A Severe acute respiratory syndrome Apnea of prematurity Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Neuroendocrine cell hyperplasia of infancy Pulmonary nodular lymphoid hyperplasia Pulmonary alveolar microlithiasis Secondary interstitial lung disease specific to adulthood associated with a systemic disease Interstitial lung disease Sudden infant death-dysgenesis of the testes syndrome Pulmonary interstitial glycogenosis Neonatal acute respiratory distress due to SP-B deficiency Recurrent respiratory papillomatosis Idiopathic eosinophilic pneumonia Acute interstitial pneumonia Idiopathic bronchiectasis Lymphoid interstitial pneumonia Chronic respiratory distress with surfactant metabolism deficiency Idiopathic chronic eosinophilic pneumonia Familial spontaneous pneumothorax Hemophilia Diffuse alveolar hemorrhage Combined immunodeficiency-enteropathy spectrum X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Pancytopenia due to IKZF1 mutations X-linked agammaglobulinemia Primary immunodeficiency with predisposition to severe viral infection Aicardi-Goutières syndrome Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Autoimmune lymphoproliferative syndrome with recurrent viral infections Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency DITRA Monocytopenia with susceptibility to infections Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Dianzani autoimmune lymphoproliferative disease Vasculitis due to ADA2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Hennekam syndrome Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Syndromic diarrhea Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Ataxia-telangiectasia Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Barth syndrome X-linked mendelian susceptibility to mycobacterial diseases Combined immunodeficiency due to CD3gamma deficiency Nijmegen breakage syndrome-like disorder Susceptibility to respiratory infections associated with CD8alpha chain mutation Combined immunodeficiency due to CRAC channel dysfunction Omenn syndrome Neonatal inflammatory skin and bowel disease Severe combined immunodeficiency due to FOXN1 deficiency Susceptibility to viral and mycobacterial infections due to STAT1 deficiency Chédiak-Higashi syndrome Cartilage-hair hypoplasia Transient hypogammaglobulinemia of infancy Recurrent infection due to specific granule deficiency Cherubism Singleton-Merten dysplasia B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome T-B+ severe combined immunodeficiency due to CD45 deficiency T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta Autoinflammatory syndrome with immune deficiency Osteopetrosis-hypogammaglobulinemia syndrome ICF syndrome Blau syndrome NIK deficiency Hoyeraal-Hreidarsson syndrome Susceptibility to localized juvenile periodontitis Multiple intestinal atresia Combined immunodeficiency due to DOCK2 deficiency Combined immunodeficiency with granulomatosis T-B+ severe combined immunodeficiency due to JAK3 deficiency Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency Severe combined immunodeficiency due to DCLRE1C deficiency T-B+ severe combined immunodeficiency due to gamma chain deficiency Severe combined immunodeficiency due to adenosine deaminase deficiency Hepatic veno-occlusive disease-immunodeficiency syndrome Activated PI3K-delta syndrome Non-severe combined immunodeficiency Constitutional mismatch repair deficiency syndrome Combined immunodeficiency due to DOCK8 deficiency PLCG2-associated antibody deficiency and immune dysregulation Combined immunodeficiency due to STK4 deficiency Combined immunodeficiency due to CD70 deficiency Severe dermatitis-multiple allergies-metabolic wasting syndrome Primary hemophagocytic lymphohistiocytosis Familial Mediterranean fever Isolated agammaglobulinemia Lichtenstein syndrome Autosomal agammaglobulinemia Hyperimmunoglobulinemia D with periodic fever Syndromic agammaglobulinemia Combined immunodeficiency due to ITK deficiency Hyper-IgM syndrome with susceptibility to opportunistic infections Severe combined immunodeficiency Hyper-IgM syndrome without susceptibility to opportunistic infections FADD-related immunodeficiency Agammaglobulinemia Recurrent infections associated with rare immunoglobulin isotypes deficiency Chronic granulomatous disease Whipple disease Hermansky-Pudlak syndrome due to AP-3 deficiency DNA repair defect other than combined T-cell and B-cell immunodeficiencies Functional neutrophil defect Predisposition to invasive fungal disease due to CARD9 deficiency Immuno-osseous dysplasia CANDLE syndrome Immunodeficiency syndrome with autoimmunity Bloom syndrome X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Immunodeficiency due to CD25 deficiency Immunoglobulin heavy chain deficiency STING-associated vasculopathy with onset in infancy Immunodeficiency due to ficolin3 deficiency WHIM syndrome Constitutional neutropenia with extra-hematopoietic manifestations F12-associated cold autoinflammatory syndrome Immunodeficiency due to MASP-2 deficiency Familial hyperinflammatory lymphoproliferative immunodeficiency Other immunodeficiency syndromes due to defects in innate immunity Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome Severe combined immunodeficiency due to complete RAG1/2 deficiency X-linked reticulate pigmentary disorder Facial dysmorphism-immunodeficiency-livedo-short stature syndrome CADINS disease Predisposition to severe viral infection due to IRF7 deficiency Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Immunodeficiency due to absence of thymus Hyper-IgE syndrome Syndrome with combined immunodeficiency Vici syndrome BENTA disease IL21-related infantile inflammatory bowel disease Severe combined immunodeficiency due to IKK2 deficiency Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Susceptibility to infection due to TYK2 deficiency Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells LIG4 syndrome Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency Selective IgM deficiency Autosomal dominant severe congenital neutropenia T+ B+ severe combined immunodeficiency Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells Majeed syndrome Immunodeficiency syndrome with hypopigmentation Recurrent Neisseria infections due to factor D deficiency Primary CD59 deficiency Leukocyte adhesion deficiency type II Immune dysregulation disease with immunodeficiency Leukocyte adhesion deficiency type I Leukocyte adhesion deficiency type III PAPA syndrome X-linked immunoneurologic disorder T-cell immunodeficiency with thymic aplasia Infantile inflammatory bowel disease with neurological involvement Myeloperoxidase deficiency Familial hemophagocytic lymphohistiocytosis Common variable immunodeficiency Autosomal recessive severe congenital neutropenia Inflammatory bowel disease-recurrent sinopulmonary infections syndrome 22q11.2 deletion syndrome Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency Immunodeficiency by defective expression of MHC class II Muckle-Wells syndrome Complement component 3 deficiency Severe combined immunodeficiency due to LCK deficiency Reticular dysgenesis Immunodeficiency due to a complement regulatory deficiency Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome Griscelli syndrome type 2 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome Netherton syndrome Cyclic neutropenia Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency TCR-alpha-beta-positive T-cell deficiency Neutropenia-monocytopenia-deafness syndrome Combined immunodeficiency due to MALT1 deficiency Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Severe combined immunodeficiency due to CORO1A deficiency Idiopathic CD4 lymphocytopenia Papillon-Lefèvre syndrome Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency Pearson syndrome T-cell immunodeficiency with epidermodysplasia verruciformis Severe combined immunodeficiency due to LAT deficiency Combined immunodeficiency due to Moesin deficiency Severe combined immunodeficiency due to CTPS1 deficiency Hyper-IgM syndrome type 2 Immunodeficiency with factor I anomaly X-linked hyper-IgM syndrome Hyper-IgM syndrome type 4 Hyper-IgM syndrome type 3 Hyper-IgM syndrome type 5 Immunodeficiency with factor H anomaly Mendelian susceptibility to mycobacterial diseases Dyskeratosis congenita Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome Combined immunodeficiency due to partial RAG1 deficiency Severe congenital neutropenia Purine nucleoside phosphorylase deficiency X-linked severe congenital neutropenia NLRP3-associated autoinflammatory disease Combined immunodeficiency due to RELA haploinsufficiency Immunodeficiency by defective expression of MHC class I Schimke immuno-osseous dysplasia Shwachman-Diamond syndrome CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome Primary immunodeficiency due to a defect in adaptive immunity Spondyloenchondrodysplasia RAS-associated autoimmune leukoproliferative disease Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Transcobalamin deficiency Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency SAMD9L-associated autoinflammatory syndrome Combined immunodeficiency due to CARD11 deficiency Poikiloderma with neutropenia RIDDLE syndrome Absent thumb-short stature-immunodeficiency syndrome STAT3-related early-onset multisystem autoimmune disease Wiskott-Aldrich syndrome Herpes simplex virus encephalitis Combined immunodeficiency due to ZAP70 deficiency Properdin deficiency Leukocyte adhesion deficiency Primary immunodeficiency syndrome due to LAMTOR2 deficiency Short-limb skeletal dysplasia with severe combined immunodeficiency Combined immunodeficiency due to CD27 deficiency Lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency Hereditary folate malabsorption Immunodeficiency due to selective anti-polysaccharide antibody deficiency Familial cold urticaria Glutaryl-CoA dehydrogenase deficiency Propionic acidemia Medium chain acyl-CoA dehydrogenase deficiency Beta-ketothiolase deficiency Multiple acyl-CoA dehydrogenase deficiency Very long chain acyl-CoA dehydrogenase deficiency Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Multiple acyl-CoA dehydrogenase deficiency, mild type Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type Fructose-1,6-bisphosphatase deficiency Glycogen storage disease due to glycogen debranching enzyme deficiency Homocystinuria due to cystathionine beta-synthase deficiency Mild phenylketonuria Maple syrup urine disease Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia Methylmalonic acidemia with homocystinuria, type cblD Methylmalonic acidemia with homocystinuria, type cblC Lysinuric protein intolerance Methylmalonic acidemia without homocystinuria Primary immunodeficiency Phenylketonuria Tyrosinemia type 1 Classic phenylketonuria Vitamin B12-responsive methylmalonic acidemia Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Roifman syndrome Vitamin B12-unresponsive methylmalonic acidemia Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Combined immunodeficiency due to OX40 deficiency Hermansky-Pudlak syndrome type 9 Siegler-Brewer-Carey syndrome Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Cernunnos-XLF deficiency X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency Congenital neutropenia-myelofibrosis-nephromegaly syndrome Immunodeficiency due to a late component of complement deficiency Sterile multifocal osteomyelitis with periostitis and pustulosis Tumor necrosis factor receptor 1 associated periodic syndrome Cohen syndrome Interstitial lung disease specific to childhood Primary interstitial lung disease in childhood and adulthood Immunodeficiency due to a classical component pathway complement deficiency Autoimmune lymphoproliferative syndrome Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Von Willebrand disease type 2N Acquired angioedema X-linked lymphoproliferative disease Combined immunodeficiency due to GINS1 deficiency Young syndrome Hemophilia B Cryptogenic organizing pneumonia Epidermodysplasia verruciformis Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity Chronic mucocutaneous candidiasis Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome Classic organic aciduria X-linked lymphoproliferative disease due to SH2D1A deficiency X-linked lymphoproliferative disease due to XIAP deficiency Disorder of urea cycle metabolism and ammonia detoxification Neutrophil immunodeficiency syndrome Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Genetic susceptibility to infections due to particular pathogens Bacterial susceptibility due to TLR signaling pathway deficiency Kostmann syndrome Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome PGM3-CDG CINCA syndrome Immune deficiency due to impaired neutrophil phagocytosis and migration Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Hereditary pulmonary alveolar proteinosis Primary interstitial lung disease specific to childhood due to alveolar vascular disorder Secondary interstitial lung disease in childhood and adulthood Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency Combined immunodeficiency due to IL21R deficiency Familial isolated congenital asplenia T-B+ severe combined immunodeficiency T-B- severe combined immunodeficiency Combined immunodeficiency due to ORAI1 deficiency Combined immunodeficiency due to STIM1 deficiency Severe combined immunodeficiency due to DNA-PKcs deficiency Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome Fetal iodine syndrome Combined immunodeficiency with facio-oculo-skeletal anomalies Combined immunodeficiency due to TFRC deficiency Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome Alopecia antibody deficiency Maternal phenylketonuria Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome Immune dysregulation with inflammatory bowel disease Combined T and B cell immunodeficiency Combined immunodeficiency due to CARMIL2 deficiency Immunodeficiency due to a complement cascade component deficiency Immunodeficiency predominantly affecting antibody production Combined immunodeficiency due to LRBA deficiency C1 inhibitor deficiency Quantitative and/or qualitative congenital phagocyte defect Constitutional neutropenia Primary immunodeficiency due to a defect in innate immunity Immunodeficiency due to a complement cascade protein anomaly