SE-ATLAS

Congenital or early infantile CACH syndrome Autosomal dominant polycystic kidney disease Juvenile or adult CACH syndrome Late infantile CACH syndrome Hypomyelination with atrophy of basal ganglia and cerebellum Psoriasis-related juvenile idiopathic arthritis Polyarticular juvenile idiopathic arthritis Spina bifida-hypospadias syndrome Pelizaeus-Merzbacher disease, connatal form Hypomyelination-congenital cataract syndrome Leukoencephalopathy with bilateral anterior temporal lobe cysts CADDS Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis Enthesitis-related juvenile idiopathic arthritis Transient neonatal myasthenia gravis Alexander disease Total spina bifida cystica Progressive cavitating leukoencephalopathy Cervical spina bifida cystica Pelizaeus-Merzbacher disease, classic form STAT3-related early-onset multisystem autoimmune disease Hypomyelination with brain stem and spinal cord involvement and leg spasticity Bleeding disorder in hemophilia A carriers Infantile Krabbe disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Bleeding disorder in hemophilia B carriers Krabbe disease Overlapping connective tissue disease Pelizaeus-Merzbacher disease, transitional form Open spinal dysraphism Peroxisome biogenesis disorder Rare pediatric systemic disease Adult Krabbe disease Cerebrotendinous xanthomatosis Total spina bifida aperta Von Willebrand disease type 1 Infantile Refsum disease Juvenile idiopathic arthritis Nasu-Hakola disease Refsum disease Alexander disease type I Zellweger syndrome Odontoleukodystrophy 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