1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0080479 | peroxisome biogenesis disorder 4A | A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:905 | Zellweger syndrome | A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. |
