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GTR Home > Conditions/Phenotypes > Interstitial lung disease due to ABCA3 deficiency


For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ABC-C, ABC3, EST111653, LBM180, SMDP3, ABCA3
    Summary: ATP binding cassette subfamily A member 3

Clinical features


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