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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

MIM:614866

Synonyms

peroxisome biogenesis disorder 5A (Zellweger) [EXACT]

Parent Relationships

is_a Zellweger syndrome

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