Pulmonary Surfactant Metabolism Dysfunction-3

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the ABCA3 gene, encoding ATP-binding cassette sub-family A member 3. It is characterized by severe respiratory insufficiency or failure in neonates or infants.

**Synonyms:** - Interstitial Lung Disease Due To ABCA3 Deficiency - SMDP3 - Surfactant Apoprotein ABCA3 Deficiency - Surfactant Metabolism Dysfunction-3 - Surfactant Protein ABCA3 Deficiency - Surfactant Protein ABCA3 Deficiency