Term Name: | peroxisome biogenesis disorder 2A |
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Synonyms: | peroxisome biogenesis disorder 2A (Zellweger) |
Definition: | A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13. |
Ontology: | Human Disease [DOID:0080477] ( DOID:0080477 ) |