PEX7
Deellabo: | PGD DNA |
Gen (Gen Code): | PEX7 |
Aliases Gen: | RD, PBD9B, PTS2R, RCDP1 |
Gen ID (NCBI): | 5191 |
OMIM Gen ID: | 601757 |
Chromosomale locatie: | 6q21-q22.2 |
Genetische aandoening / Analyse: | Rhizomelic chondrodysplasia punctata type 1 |
OMIM aandoening ID: | 215100 |
Overerving: | AR |
Aliases aandoening: | PEROXISOME BIOGENESIS DISORDER 9; PBD9 CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC FORM; CDPR CHONDRODYSTROPHIA CALCIFICANS PUNCTATA |