Disease Term Disease ID Gene Symbol Classification References Source
Brittle cornea syndrome 90354 PRDM5 Causal Pathogenic evidence from ClinVar - ClinVar
ZNF469 Causal Pathogenic evidence from ClinVar - ClinVar
BRITTLE CORNEA SYNDROME 2 C3280011 PRDM5 Causal Pathogenic evidence from ClinVar 21664999, 22122778, 23680354 ClinVar