peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain
Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene.
MONDO:0015776
rhizomelic chondrodysplasia punctata
is_a
MONDO:0015905
syndromic dyslipidemia
is_a
MONDO:0100322
non-Zellweger spectrum disorder
is_a
peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain
exact
SPBC725.07