Disease Term Disease ID Gene Symbol References
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 C1859133 PEX7 9090381, 21465523, 25851898, 12522768, 27604308, 12325024, 10083738, 11781871, 11756410, 23572185, 26587300, 10673331, 17325280, 9090382, 9090383, 21990100, 14974078, 7719337, 23352163, 26408048, 22057399
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 C4225237 PEX5 18712838, 26220973
Rhizomelic chondrodysplasia punctata, type 2 C1857242 GNPAT 21990100, 1405476, 11152660, 27604308, 9536089
Rhizomelic chondrodysplasia punctata, type 3 C1838612 AGPS 24849933, 11152660, 27604308, 21990100, 9553082
Rhizomelic chondrodysplasia punctata type 3 309803 AGPS
Rhizomelic chondrodysplasia punctata type 1 309789 PEX7
Rhizomelic chondrodysplasia punctata type 2 309796 GNPAT
Rhizomelic chondrodysplasia punctata type 5 468717 PEX5