1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0111329 | pyridoxamine 5'-phosphate oxidase deficiency | A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:655 | inherited metabolic disorder | A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. |
