preferred_name: rhizomelic chondrodysplasia punctata type 2
preferred_name_lc: rhizomelic chondrodysplasia punctata type 2
label: CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC, DUE TO DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY
label_lc: chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency