Disease Term Disease ID Gene Symbol Classification References Source
MILLER DIEKER SYNDROME MYO1C Unknown Disgenet
PAFAH1B1 Unknown Disgenet
YWHAE Unknown Disgenet
MILLER SYNDROME DHODH Causal ClinVar HPO
MILLER-DIEKER SYNDROME
531
HIC1 Unknown Orphanet
PAFAH1B1 Unknown Orphanet
YWHAE Unknown Orphanet