Term Name: | peroxisome biogenesis disorder 12A |
---|---|
Synonyms: | peroxisome biogenesis disorder 12A (Zellweger) |
Definition: | A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX19 gene on chromosome 1q23. |
Ontology: | Human Disease [DOID:0080486] ( DOID:0080486 ) |