Disease Term Disease ID Gene Symbol Classification References Source
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA C4310761 LARS2 Causal Pathogenic evidence from ClinVar 26537577 ClinVar
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome 528091 LARS2 Causal Pathogenic evidence from ClinVar - ClinVar