SE-ATLAS

CACH-Syndrom, kongenitales oder früh-infantile Form Nierenkrankheit, polyzystische, autosomal-dominante CACH-Syndrom, juvenile oder adulte Form CACH-Syndrom, spät-infantile Form Hypomyelinisierung mit Atrophie der Basalganglien und des Kleinhirns Arthritis, idiopathische juvenile, Psoriasis-assoziierte Arthritis, idiopathische juvenile, polyartikuläre Spina bifida-Hypospadie-Syndrom Pelizaeus-Merzbacher-Krankheit, konnatale Form Hypomyelinisierung - kongenitale Katarakt Leukoenzephalopathie mit beiderseitigen vorderen Temporallappen-Zysten CADDS Arthritis, idiopathische juvenile polyartikuläre, Rheumafaktor-positive Arthritis, idiopathische juvenile, Enthesitis-assoziierte Transiente neonatale Myasthenia gravis Alexander-Krankheit Spina bifida cystica, totale Leukoenzephalopathie, kavitierende progressive Spina bifida cystica, zervikale Pelizaeus-Merzbacher-Krankheit, klassische Form STAT3-assoziierte früh beginnende multisystemische Autoimmunkrankheit Hypomyelinisierung mit Hirnstamm- und Rückenmarkbeteiligung und Beinspastik Symptomatische Form der Hämophilie A bei weiblichen Anlageträgerinnen Krabbe-Syndrom, infantile Form Periphere demyelinisierende Neuropathie-zentrale demyelinisierende Leukodystrophie-Waardenburg-Syndrom-Hirschsprung Krankheit Leukoenzephalopathie-Thalamus und Hirnstamm-Anomalien-Hoher Laktatwert-Syndrom Symptomatische Form der Hämophilie B bei weiblichen Anlageträgerinnen Krabbe-Syndrom Mischkollagenose, überlappende Pelizaeus-Merzbacher-Krankheit, transitionale Form Spinale Dysraphie, offene Peroxisomenbiogenesedefekt Seltene systemische Krankheit des Kindes Krabbe-Syndrom, mit Beginn im Erwachsenenalter Xanthomatose, zerebrotendinöse Spina bifida aperta, totale Von-Willebrand-Syndrom Typ 1 Refsum-Krankheit, infantile Form Arthritis, idiopathische juvenile Nasu-Hakola-Krankheit Refsum-Krankheit Alexander-Krankheit Typ I Zellweger-Syndrom Odontoleukodystrophie Alexander disease type II Unexplained long-lasting fever/inflammatory syndrome Secondary neonatal autoimmune disease Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome Juvenile dermatomyositis Von Willebrand disease type 3 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia Neonatal antiphospholipid syndrome Cervical spina bifida aperta Sarcoidosis Pelizaeus-Merzbacher-like disease Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Severe hemophilia B Neonatal autoimmune hemolytic anemia Mixed connective tissue disease Moderate hemophilia B Severe hemophilia A Mild Canavan disease Mild hemophilia B Neonatal dermatomyositis Spastic paraplegia type 2 Hemophilia B Hemophilia A Neonatal scleroderma CACH syndrome Systemic sclerosis Autoimmune interstitial lung disease-arthritis syndrome CREST syndrome Pelizaeus-Merzbacher-like disease due to HSPD1 mutation Pelizaeus-Merzbacher-like disease due to GJC2 mutation Juvenile polymyositis Spina bifida and other spinal dysraphisms Pelizaeus-Merzbacher-like disease due to AIMP1 mutation Adrenomyeloneuropathy Canavan disease Kawasaki disease Ovarioleukodystrophy Leukoencephalopathy-dystonia-motor neuropathy syndrome Cree leukoencephalopathy Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Pelizaeus-Merzbacher disease Megalencephalic leukoencephalopathy with subcortical cysts Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis Cystic leukoencephalopathy without megalencephaly PLCG2-associated antibody deficiency and immune dysregulation Unspecified juvenile idiopathic arthritis Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies Systemic-onset juvenile idiopathic arthritis Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies Leukoencephalopathy with mild cerebellar ataxia and white matter edema Chronic intestinal failure Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies Allan-Herndon-Dudley syndrome Gastroschisis Congenital diaphragmatic hernia Moderate hemophilia A Ravine syndrome Mild hemophilia A Pediatric systemic lupus erythematosus Eosinophilic fasciitis Lumbosacral spina bifida aperta Late-infantile/juvenile Krabbe disease Omphalocele Von Willebrand disease Oligoarticular juvenile idiopathic arthritis Pelizaeus-Merzbacher disease in female carriers Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Spinal dysraphism with a posterior meningocele Null syndrome Diffuse cutaneous systemic sclerosis Pediatric Castleman disease Diaphragmatic or abdominal wall malformation Neonatal lupus erythematosus Severe Canavan disease Aicardi-Goutières syndrome Von Willebrand disease type 2 Lumbosacral spina bifida cystica