| Metadata | |
|---|---|
| ID | DOID:0080478 |
| PURL | http://purl.obolibrary.org/obo/DOID_0080478 Copy |
| Name | peroxisome biogenesis disorder 3A |
| Definition | A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17. https://www.ncbi.nlm.nih.gov/pubmed/17055079 |
| Xrefs | |
| Synonyms |
peroxisome biogenesis disorder 3A (Zellweger) [EXACT] |
| Parent Relationships |
is_a Zellweger syndrome |