Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931653
Disease: Petty Laxova Wiedemann syndrome
Petty Laxova Wiedemann syndrome
0.300 GermlineCausalMutation disease ORPHANET De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise. 29100094 2017