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ENDiaphragmatic Eventration
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Diaphragmatic Eventration is related to distal spinal muscular atrophy 1 and pneumothorax, primary spontaneous. An important gene associated with Diaphragmatic Eventration is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha), and among its related pathways/superpathways is Kallmann syndrome. Affiliated tissues include liver and small intestine, and related phenotypes are nervous system and growth/size/body region
Related ID：
MESH：D003965
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MALACARDS
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