SMPD3, sphingomyelin phosphodiesterase 3, 55512

N. diseases: 50; N. variants: 8
Disease: Chondrodysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		0.010 Biomarker disease BEFREE The phenotype of the genetically unbiased Smpd3<sup>-/-</sup> mouse, described here, precludes the proposed role of Smpd3 as a candidate gene of human osteogenesis imperfecta, but suggests SMPD3 deficiency as the pathogenetic basis of a novel form of chondrodysplasia. 31199918 2019