Disease: Congenital Deficiency of Pulmonary Surfactant Protein B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3179539
Disease: Congenital Deficiency of Pulmonary Surfactant Protein B
Congenital Deficiency of Pulmonary Surfactant Protein B 		0.010 GeneticVariation disease BEFREE Recently, mutations in the ABCA3 transporter were found as an underlying cause of fatal respiratory failure in neonates without surfactant protein B deficiency. 15819986 2005