Disease: Schneckenbecken dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432194
Disease: Schneckenbecken dysplasia
Schneckenbecken dysplasia 		0.300 GermlineCausalMutation disease ORPHANET A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1). 25997753 2015