non-Zellweger spectrum disorder
http://purl.obolibrary.org/obo/MONDO_0100322
A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7. [ https://orcid.org/0000-0002-2796-282X https://clinicalgenome.org/affiliation/40049/ ]
Term info
disease_grouping
https://github.com/monarch-initiative/mondo/issues/2632
https://orcid.org/0000-0001-5208-3432
A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7.
non-Zellweger spectrum disorder
MONDO:0100322