PLP1, proteolipid protein 1, 5354

N. diseases: 160; N. variants: 43
Disease: Congenital absence of lung ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265780
Disease: Congenital absence of lung
Congenital absence of lung 		0.010 Biomarker disease BEFREE This rare association is known as Matthew-Wood syndrome (MWS; MIM 601186) or by the acronym "PMD" (Pulmonary agenesis, Microphthalmia, Diaphragmatic defect). 17236193 2007