Disease Term Disease ID Gene Symbol Classification References Source
Genee-Wiedemann syndrome C0265257 DHODH Causal Pathogenic evidence from ClinVar 19915526, 21346561, 21851494, 22692683, 22967083, 27626380 ClinVar
Postaxial acrofacial dysostosis 246 DHODH Causal Pathogenic evidence from ClinVar - ClinVar