Term Name: | peroxisome biogenesis disorder 1A |
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Synonyms: | peroxisome biogenesis disorder 1A (Zellweger) |
Definition: | A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21. |
Ontology: | Human Disease [DOID:0080476] ( DOID:0080476 ) |