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Metadata
ID	SO:0001537
Name	structural_variant
Parent Relationships	is_a sequence_variant
Related Diseases	disease has basis in mevalonic aciduria aspartylglucosaminuria acrodermatitis enteropathica primary cutaneous amyloidosis deafness-dystonia-optic neuronopathy syndrome mitochondrial complex V (ATP synthase) deficiency nuclear type 1 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 mitochondrial complex III deficiency nuclear type 2 chylomicron retention disease multiple acyl-CoA dehydrogenase deficiency glycerol kinase deficiency lysinuric protein intolerance mitochondrial complex II deficiency ethylmalonic encephalopathy methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency methylmalonic acidemia due to transcobalamin receptor defect methylmalonic acidemia cblA type methylmalonic acidemia cblB type Niemann-Pick disease type A Niemann-Pick disease type B Niemann-Pick disease type C1 Niemann-Pick disease type C2 primary coenzyme Q10 deficiency 1 primary coenzyme Q10 deficiency 2 primary coenzyme Q10 deficiency 3 primary coenzyme Q10 deficiency 4 primary coenzyme Q10 deficiency 5 primary coenzyme Q10 deficiency 6 primary coenzyme Q10 deficiency 7 primary coenzyme Q10 deficiency 8 mitochondrial complex III deficiency nuclear type 1 mitochondrial complex III deficiency nuclear type 3 mitochondrial complex III deficiency nuclear type 4 mitochondrial complex III deficiency nuclear type 5 mitochondrial complex III deficiency nuclear type 6 mitochondrial complex III deficiency nuclear type 7 mitochondrial complex III deficiency nuclear type 8 mitochondrial complex III deficiency nuclear type 9 immunoglobulin light chain amyloidosis familial isolated deficiency of vitamin E D-bifunctional protein deficiency lethal congenital glycogen storage disease of heart autosomal recessive hypercholesterolemia aromatic L-amino acid decarboxylase deficiency carnitine palmitoyltransferase I deficiency dopamine beta-hydroxylase deficiency Axenfeld-Rieger syndrome type 1 Axenfeld-Rieger syndrome type 3 Gaucher's disease type I Gaucher's disease type II Gaucher's disease perinatal lethal atypical Gaucher's disease due to saposin c deficiency hemochromatosis type 2A hemochromatosis type 4 hemochromatosis type 1 hemochromatosis type 3 hemochromatosis type 5 hemochromatosis type 2B glycogen storage disease IXb congenital bile acid synthesis defect 5 congenital bile acid synthesis defect 6 congenital bile acid synthesis defect 4 congenital bile acid synthesis defect 2 congenital bile acid synthesis defect 3 congenital bile acid synthesis defect 1 maturity-onset diabetes of the young type 1 maturity-onset diabetes of the young type 2 maturity-onset diabetes of the young type 5 maturity-onset diabetes of the young type 3 maturity-onset diabetes of the young type 4 maturity-onset diabetes of the young type 6 maturity-onset diabetes of the young type 7 maturity-onset diabetes of the young type 9 maturity-onset diabetes of the young type 10 maturity-onset diabetes of the young type 11 maturity-onset diabetes of the young type 13 maturity-onset diabetes of the young type 14 molybdenum cofactor deficiency type B molybdenum cofactor deficiency type A molybdenum cofactor deficiency type C apparent mineralocorticoid excess syndrome genetic disease inherited metabolic disorder cerebral amyloid angiopathy