Pulmonary Surfactant Metabolism Dysfunction-1

**Semantic type:** Disease or Syndrome

**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.

**Synonyms:** - SMDP1 - Surfactant Apoprotein B Deficiency - Surfactant Protein B Deficiency - Surfactant Protein B Deficiency