preferred_name: rhizomelic chondrodysplasia punctata type 2
preferred_name_lc: rhizomelic chondrodysplasia punctata type 2
label: PEROXISOMAL DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY
label_lc: peroxisomal dihydroxyacetonephosphate acyltransferase deficiency