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 Neutropenie, kongenitale schwere, autosomal-rezessive Entzündliche Darmerkrankung-rekurrente sinupulmonale Infektionen-Syndrom Deletion 22q11 Suszeptibilität für Mykobakteriosen durch kompletten IFN-gamma-R1-Defekt Immundefekt durch MHC Klasse II-Expressionsdefekt Muckle-Wells-Syndrom Komplement-Komponente 3-Mangel Immundefekt, kombinierter schwerer, durch LCK-Mangel Retikuläre Dysgenesie Immundefekt durch regulatorischen Proteinen-Mangel des Komplementsystems Skelettdysplasie-T-Zell-Immundefekt-Entwicklungsverzögerung-Syndrom Griscelli-Syndrom Typ 2 Kongenitales progressives Knochenmarkversagen-B-Zell-Immundefekt-Skelettdysplasie-Syndrom Netherton-Syndrom Neutropenie, zyklische Primärer Immundefekt mit Mangel der natürlichen Killerzellen und Nebenniereninsuffizienz T-Zell-Mangel, TCR-alpha-beta-positiver Neutropenie - Monozytopenie - Schwerhörigkeit Immundefekt, kombinierter, durch MALT1-Mangel Agammaglobulinämie-Mikrozephalie-Kraniosynostose-schwere Dermatitis-Syndrom Immundefekt, kombinierter schwerer, durch CORO1A-Mangel CD4-Lymphozytopenie, idiopathische Papillon-Lefèvre-Syndrom Mendelsche Anfälligkeit für Erkrankungen durch Mykobakterien, autosomal-rezessive, durch kompletten RORgamma-Rezeptor-Mangel Pearson-Syndrom T-Zell-Immundefekt mit Epidermodysplasia verruciformis Schwerer kombinierter Immundefekt durch LAT-Defizienz Kombinierter Immundefekt durch Moesin-Defizienz Immundefekt, kombinierter schwerer, durch CTPS1-Defizienz Hyper-IgM-Syndrom Typ 2 Immundefekt mit Faktor I-Anomalie Hyper-IgM-Syndrom, X-chromosomales Hyper-IgM-Syndrom Typ 4 Hyper-IgM-Syndrom Typ 3 Hyper-IgM-Syndrom Typ 5 Immundefekt mit Faktor H-Anomalie Suszeptibilität für Mykobakteriosen, familiäre Form Dyskeratosis congenita Warzen-Immundefekt-Lymphödem-anogenitale Dysplasie-Syndrom Immundefekt, kombinierter, durch partiellen RAG1-Mangel Neutropenie, kongenitale schwere Purin-Nukleosid-Phosphorylase-Mangel Neutropenie, kongenitale schwere, X-chromosomale Cryopyrin-assoziiertes periodisches Syndrom Immundefekt, kombinierter, durch Rela-Haploinsuffizienz Immundefekt durch MHC Klasse I-Expressionsdefekt Knochendysplasie, immuno-ossäre, Typ Schimke Shwachman-Diamond-Syndrom CEBPE-assoziierte Autoinflammation-Immundefekt- neutrophile Funktionsstörung-Syndrom Primärer Immundefekt durch Störung der adaptiven Immunität Spondyloenchondrodysplasie RAS-assoziierte autoimmun-lymphoproliferative Krankheit Neutropenie, kongenitale schwere, autosomal-rezessive, durch CSF3R-Mangel Transcobalamin II-Mangel Neutropenie, kongenitale schwere, autosomal-rezessive, durch CXCR2-Mangel SAMD9L-assoziiertes autoinflammatorisches Syndrom Immundefekt, kombinierter schwerer, durch CARD11-Mangel Poikilodermie mit Neutropenie RIDDLE-Syndrom Fehlende Daumen-Kleinwuchs-Immundefekt-Syndrom STAT3-assoziierte früh beginnende multisystemische Autoimmunkrankheit Wiskott-Aldrich-Syndrom Herpes-simplex-Enzephalitis Immundefekt, kombinierter, durch ZAP70-Mangel Properdin-Mangel Leukozytenadhäsionsdefekt Primäres Immundefekt-Syndrom durch LAMTOR2-Defizienz Skelettdysplasie mit verkürzten Extremitäten und schwerem kombinierten Immundefekt Lymphoproliferative Krankheit, autosomal-rezessive Lymphoproliferatives Syndrom Autoimmun-lymphoproliferatives Syndrom durch CTLA4-Haploinsuffizienz Folat-Malabsorption, hereditäre Immundefekt durch selektiven Antipolysaccharid-Antikörper-Mangel Kälte-Urtikaria, familiäre Glutaryl-CoA-Dehydrogenase-Mangel Propionazidämie Mittelketten-Acyl-CoA-Dehydrogenase-Mangel Beta-Ketothiolase-Mangel Acyl-CoA-Dehydrogenase-Mangel, multipler Sehr langkettige-Acyl-CoA-Dehydrogenase-Mangel Methylmalonazidämie durch Methylmalonyl-CoA-Epimerase-Mangel Multipler Acyl-CoA-Dehydrogenase-Mangel, milder Typ Multipler Acyl-CoA-Dehydrogenase-Mangel, schwerer neonataler Typ Fruktose-1,6-Bisphosphatase-Mangel Glykogenose Typ 3 Homocystinurie, klassische Phenylketonurie, milde Ahornsirup-Krankheit Glykogenose Typ 1a Methylmalonazidämie mit Homocystinurie Typ cbl D Methylmalonazidämie mit Homocystinurie Typ cbl C Lysinurische Proteinintoleranz (LPI) Methylmalonazidämie ohne Homocystinurie Immundefekt, primärer Phenylketonurie Tyrosinämie Typ 1 Phenylketonurie, klassische Methylmalonazidämie, Vitamin B12-sensible Pulmonale Alveolarproteinose-Hypogammaglobulinämie, infantile Form Langketten-3-Hydroxyacyl-CoA-Dehydrogenase-Mangel Roifman-Syndrom Methylmalonazidämie, Vitamin B12-resistente Evans-Syndrom mit assoziiertem primären Immundefekt Autosomal-rezessive Suszeptibilität für Mykobakteriosen durch kompletten Defekt Immundefekt, kombinierter, durch OX40-Mangel Hermansky-Pudlak-Syndrom Typ 9 Siegler-Brewer-Carey-Syndrom Suszeptibilität für Mykobakteriosen durch partiellen IRF8-Defekt Cernunnos/XLF-Mangel X-chromosomale Suszeptibilität für Mykobakteriosen durch IKBKG-Defekt Rezidivierende Infekte-Myelofibrose-Nephromegalie-Syndrom Immundefekt durch Komplementdefekt bei Störung einer späten Komponente Sterile multifokale Osteomyelitis mit Periostitis und Pustulose Tumornekrosefaktor-Rezeptor 1-assoziiertes periodisches Fieber-Syndrom Cohen-Syndrom Interstitielle Lungenkrankheit, spezifische, der Kindheit Interstitielle Lungenkrankheit, primäre, des Kindes/Erwachsenen Immundefekt durch klassischen Komponentenmangel des Komplementsystems Autoimmun-lymphoproliferatives Syndrom Kongenitale sideroblastische Anämie-B-Zell-Immundefekt-periodisches Fieber-Entwicklungsverzögerung-Syndrom Immundefekt, kombinierter schwerer, T- B+, durch IL-7Ralpha-Mangel Von-Willebrand-Syndrom Typ 2N Angioödem, erworbenes Lymphoproliferative Krankheit, X-chromosomale Immundefekt, kombinierter, durch GINS1-Mangel Young-Syndrom Hämophilie B Pneumonie, kryptogene organisierende Epidermodysplasia verruciformis Autosomal-rezessiver primärer Immundefekt mit defekter spontaner natürlicher Killer-Zellen-Zytotoxizität Candidose, chronische mukokutane Autoimmune Enteropathie und Endokrinopathie-Empfänglichkeit für chronische Infektionen-Syndrom Organoazidopathie, klassische X-chromosomales lymphoproliferatives Syndrom durch SH2D1A-Mangel X-chromosomales lymphoproliferatives Syndrom durch XIAP-Mangel Harnstoffzyklusdefekt und Störung der Ammoniak-Entgiftung Neutrophiles Immundefekt-Syndrom Glykogenose Typ 1b Genetische Prädisposition für Infektionen durch spezifische Pathogene Suszeptibilität für Bakterieninfektion durch TLR Signalweg-Defizienz Kostmann-Syndrom Syndrom der früh einsetzenden Autoimmunität mit Autoinflammation und Immundefizienz PGM3-CDG CINCA-Syndrom Immundefekt durch Störung der Phagozytose und Migration der Neutrophilen Neutropenie, kongenitale schwere, autosomal-rezessive, durch G6PC3-Mangel Pulmonale Alveolarproteinose, hereditäre Form Interstitielle Lungenkrankheit durch alveoläre Vaskulationsstörungen, primäre spezifische, der Kindheit Interstitielle Lungenkrankheit, sekundäre, des Kindes/Erwachsenen Sekundäre interstitielle Lungenkrankheit im Kindes- und Erwachsenenalter mit assoziierter Bindegewebsstörung Immundefekt durch Interleukin-1-Rezeptor-assoziierten Kinase-4-Mangel Kombinierter Immundefekt durch IL21R-Mangel Asplenie, familiäre isolierte, kongenitale Immundefekt, kombinierter schwerer, T-B+ Immundefekt, kombinierter schwerer, T-B- Immundefekt, kombinierter, durch ORAI1-Mangel Immundefekt, kombinierter, durch STIM1-Mangel Immundefekt, kombinierter schwerer, durch DNA-PKcs-Mangel Hereditäre fibröse Poikilodermie-Sehnenkontraktur-Myopathie-Lungenfibrose-Syndrom Jodmangelsyndrom, fetales Kombinierter Immundefekt mit fazio-okulo-skelettalen Anomalien Kombinierter Immundefekt durch TFRC-Mangel Immun-Dysregulation-inflammatorische Darmerkrankung-Arthritis-rezidivierende Infekte-Syndrom Alopezie mit Antikörper-Mangel Phenylketonurie, maternale Immundysregulation-entzündliche Darmerkrankung-Arthritis-rekurrente Infektionen-Lymphopenie Immundysregulation mit entzündlicher Darmerkrankung T- und B-Zell-Immundefekt, kombinierter Immundefekt, kombinierter, durch CARMIL2-Mangel Immundefekt durch Komponenten-Mangel der Komplement-Kaskase Immundefekt mit vorwiegender Beeinträchtigung der Antikörper-Produktion Immundefekt, kombinierter, durch LRBA-Mangel C1-Inhibitor-Mangel Phagozytendefekt, kongenitaler (Funktion und/oder Anzahl) Neutropenie, konstitutionelle Primärer Immundefekt durch Anomalie des angeborenen Immunsystems Immundefekt mit Störung des Komplement-Aktivierungsweg