Term Name: | peroxisome biogenesis disorder 3A |
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Synonyms: | peroxisome biogenesis disorder 3A (Zellweger) |
Definition: | A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17. |
Ontology: | Human Disease [DOID:0080478] ( DOID:0080478 ) |