SE-ATLAS

Congenital or early infantile CACH syndrome Autosomal dominant polycystic kidney disease Hypomyelination with atrophy of basal ganglia and cerebellum Psoriasis-related juvenile idiopathic arthritis CADDS Spina bifida-hypospadias syndrome Pelizaeus-Merzbacher disease, connatal form Hypomyelination-congenital cataract syndrome Leukoencephalopathy with bilateral anterior temporal lobe cysts Enthesitis-related juvenile idiopathic arthritis Transient neonatal myasthenia gravis Total spina bifida cystica Progressive cavitating leukoencephalopathy Pelizaeus-Merzbacher disease, classic form Cervical spina bifida cystica STAT3-related early-onset multisystem autoimmune disease Bleeding disorder in hemophilia A carriers Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Bleeding disorder in hemophilia B carriers Krabbe disease Open spinal dysraphism Peroxisome biogenesis disorder Adult Krabbe disease Total spina bifida aperta Juvenile idiopathic arthritis Von Willebrand disease type 1 Alexander disease type I Zellweger syndrome Odontoleukodystrophy Unexplained long-lasting fever/inflammatory syndrome Secondary neonatal autoimmune disease Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome Von Willebrand disease type 3 Neonatal antiphospholipid syndrome Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia Cervical spina bifida aperta Pelizaeus-Merzbacher-like disease Severe hemophilia B Moderate hemophilia B Mild Canavan disease Neonatal dermatomyositis Spastic paraplegia type 2 Neonatal scleroderma Systemic sclerosis CREST syndrome Autoimmune interstitial lung disease-arthritis syndrome Pelizaeus-Merzbacher-like disease due to HSPD1 mutation Pelizaeus-Merzbacher-like disease due to GJC2 mutation Spina bifida and other spinal dysraphisms Pelizaeus-Merzbacher-like disease due to AIMP1 mutation Adrenomyeloneuropathy Cree leukoencephalopathy Leukoencephalopathy-dystonia-motor neuropathy syndrome PLCG2-associated antibody deficiency and immune dysregulation Unspecified juvenile idiopathic arthritis Systemic-onset juvenile idiopathic arthritis Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies Ravine syndrome Leukoencephalopathy with mild cerebellar ataxia and white matter edema Chronic intestinal failure Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies Neonatal lupus erythematosus Allan-Herndon-Dudley syndrome Gastroschisis Moderate hemophilia A Congenital diaphragmatic hernia Eosinophilic fasciitis Lumbosacral spina bifida aperta Late-infantile/juvenile Krabbe disease Pediatric systemic lupus erythematosus Von Willebrand disease Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Null syndrome Spinal dysraphism with a posterior meningocele Diffuse cutaneous systemic sclerosis Pediatric Castleman disease Diaphragmatic or abdominal wall malformation Aicardi-Goutières syndrome Lumbosacral spina bifida cystica Juvenile or adult CACH syndrome Late infantile CACH syndrome Neonatal autoimmune hemolytic anemia Severe Canavan disease Sarcoidosis Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies Hemophilia B Ovarioleukodystrophy Kawasaki disease Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies Mixed connective tissue disease Rare pediatric systemic disease Alexander disease Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Hemophilia A Mild hemophilia B Severe hemophilia A Mild hemophilia A Polyarticular juvenile idiopathic arthritis Infantile Krabbe disease Juvenile polymyositis CACH syndrome Cerebrotendinous xanthomatosis Canavan disease Hypomyelination with brain stem and spinal cord involvement and leg spasticity Cystic leukoencephalopathy without megalencephaly Omphalocele Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis Pelizaeus-Merzbacher disease in female carriers Oligoarticular juvenile idiopathic arthritis Pelizaeus-Merzbacher disease, transitional form Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Megalencephalic leukoencephalopathy with subcortical cysts Overlapping connective tissue disease Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis Pelizaeus-Merzbacher disease Von Willebrand disease type 2 Alexander disease type II Nasu-Hakola disease Juvenile dermatomyositis