Disease: Osteogenesis imperfecta, Levin type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		0.010 Biomarker disease BEFREE Mild hyperphenylalaninemia and GDD should warrant targeted DNAJC12 genetic testing for the early diagnosis of DNAJC12-associated hyperphenylalaninemia, movement disorder, and intellectual disability. 30139987 2018