Term Name: | peroxisome biogenesis disorder 4A |
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Synonyms: | peroxisome biogenesis disorder 4A (Zellweger) |
Definition: | A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1. |
Ontology: | Human Disease [DOID:0080479] ( DOID:0080479 ) |