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ENCalvarial Doughnut Lesions with Bone Fragility (CDL)
Alias:
Calvarial Doughnut Lesions with Bone Fragility with or Without Spondylometaphyseal Dysplasia
Calvarial Doughnut Lesions-Bone Fragility Syndrome
Calvarial Doughnut Lesions with Bone Fragility and Spondylometaphyseal Dysplasia
Doughnut Lesions of Skull, Familial
Cdl
Familial Doughnut Lesions of Skull
Cdlsmd
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Calvarial Doughnut Lesions with Bone Fragility, also known as calvarial doughnut lesions-bone fragility syndrome, is related to cornelia de lange syndrome 1 and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Calvarial Doughnut Lesions with Bone Fragility is SGMS2 (Sphingomyelin Synthase 2), and among its related pathways/superpathways is Glycerolipids and glycerophospholipids. Affiliated tissues include bone, and related phenotypes are motor delay and platyspondyly
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