Disease Term Disease ID Gene Symbol Classification References Source
VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY ATRIP Unknown Disgenet
TREX1 Unknown CTD Disgenet
VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS TREX1 Unknown HPO
VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY PTEN Causal Disgenet