Metadata | |
---|---|
ID | DOID:0080480 |
Name | peroxisome biogenesis disorder 5A |
Definition | A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX2 gene on chromosome 8q21. https://www.ncbi.nlm.nih.gov/pubmed/17055079 |
Xrefs | |
Synonyms |
peroxisome biogenesis disorder 5A (Zellweger) [EXACT] |
Parent Relationships |
is_a Zellweger syndrome |