" /> Pulmonary Surfactant Metabolism Dysfunction-1 - CISMeF





Preferred Label : Pulmonary Surfactant Metabolism Dysfunction-1;

NCIt synonyms : Surfactant Protein B Deficiency; SMDP1;

NCIt related terms : Surfactant Apoprotein B Deficiency;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the SFTPB gene, encoding pulmonary surfactant-associated protein B. It is characterized by severe respiratory distress-like illness and responds poorly to exogenous administration of surfactant.;

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31/07/2025


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