Properties

MORBIDMAP :NAME MM: Peroxisome biogenesis disorder 2B :MORBID_ID 202370 :NUM 3 :SYM (PEX5 PXR1 PTS1R PBD2A PBD2B) :LOCUS 12p13.31 :OMIM_ID 600414 :SNP PEROXISOME BIOGENESIS DISORDER 2B; PEX5, ASN489LYS; rs61752138 PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PEX5, ARG390TER; rs61752137 :AAUSHI PEROXISOMAL_BIOGENESIS_DISORDER :AAUSHIGENE PEROXIN_5