Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.110 GeneticVariation disease BEFREE We suggest genetic testing for possible ALDH18A1 mutations in all patients with progeroid features, like wrinkled or parchment-like skin, abnormal growth, especially with central nervous system involvement and microcephaly. 24767728 2014
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.110 Biomarker disease HPO