preferred_name: rhizomelic chondrodysplasia punctata type 2
preferred_name_lc: rhizomelic chondrodysplasia punctata type 2
label: chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate
label_lc: chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate