Properties

MORBIDMAP :NAME MM: Rhizomelic chondrodysplasia punctata, type 1 :MORBID_ID 215100 :NUM 3 :SYM (PEX7 RCDP1 PBD9B) :LOCUS 6q23.3 :OMIM_ID 601757 :SNP RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; PEX7, LEU292TER; rs1805137 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; PEX7, ALA218VAL; rs121909151 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; PEX7, GLY217ARG; rs121909152 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; PEX7, ARG232TER; rs121909153 PEROXISOME BIOGENESIS DISORDER 9B; PEX7, TYR115TER; rs121909154 PEROXISOME BIOGENESIS DISORDER 9B; PEX7, TYR40TER; rs61753238 PEROXISOME BIOGENESIS DISORDER 9B; PEX7, THR14PRO; rs61753233 :AAUSHI RHIZOMELIC_CHONDRODYSPLASIA_PUNCTATA :AAUSHIGENE PEROXIN_7