Disease Term Disease ID Gene Symbol Classification References Source
PSEUDO-TORCH SYNDROME OCLN Unknown Disgenet GWAS catalog
PSEUDO-TORCH SYNDROME 1 OCLN Causal CTD ClinVar Disgenet GWAS catalog HPO
PSEUDO-TORCH SYNDROME 2 USP18 Causal ClinVar Disgenet GWAS catalog HPO
PSEUDO-TORCH SYNDROME 3 STAT2 Causal CTD ClinVar Disgenet HPO
PSEUDO-TORCH SYNDROME TYPE 1 OCLN Unknown Orphanet
PSEUDO-TORCH SYNDROME TYPE 2 USP18 Unknown Orphanet