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ENEhlers-Danlos Syndrome, Kyphoscoliotic Type, 1 (EDSKSCL1)
Alias:
Eds Vi
Nevo Syndrome
Kyphoscoliotic Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome, Type Vi
Ehlers-Danlos Syndrome Type 6
Ehlers-Danlos Syndrome, Kyphoscoliotic Type 1
Ehlers-Danlos Syndrome Kyphoscoliotic Type 1
Kyphoscoliotic Eds
Edskscl1
Eds Via
Eds6
Keds
Kyphoscoliotic Ehlers-Danlos Syndrome Due to Lysyl Hydroxylase 1 Deficiency
Kyphoscoliotic Eds Due to Lysyl Hydroxylase 1 Deficiency
Ehlers-Danlos Syndrome, Ocular-Scoliotic Type
Ehlers-Danlos Syndrome, Type Via, Formerly
Ehlers-Danlos Syndrome Kyphoscoliotic Type
Ehlers-Danlos Syndrome Oculoscoliotic Type
Lysyl Hydroxylase-Deficient Eds
Ehlers-Danlos Syndrome Type 6a
Ehlers-Danlos Syndrome 6
Ocular-Scoliotic Eds
Cutis Hyperelastica
Eds6a, Formerly
Keds-Plod1
Eds6a
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Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1, also known as eds vi, is related to scoliosis and plod1-related kyphoscoliotic ehlers-danlos syndrome. An important gene associated with Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 is PLOD1 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1), and among its related pathways/superpathways is Type I collagen synthesis in the context of osteogenesis imperfecta. The drugs Riboflavin and Folic acid have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are osteopenia and hypotonia
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