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ENBruck Syndrome 1 (BRKS1)
Alias:
Kuskokwim Disease
Kuskokwim Syndrome
Arthrogryposis-Like Syndrome
Arthrogryposis-Like Disorder
Brks1
Arthrogryposis Like Disorder
Bruck Syndrome, Type 1
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Bruck Syndrome 1, also known as kuskokwim disease, is related to bruck syndrome and brittle bone disorder. An important gene associated with Bruck Syndrome 1 is FKBP10 (FKBP Prolyl Isomerase 10), and among its related pathways/superpathways is Type I collagen synthesis in the context of osteogenesis imperfecta. Affiliated tissues include bone, and related phenotypes are gait disturbance and joint stiffness
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MALACARDS
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