1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0081131 | BH4-deficient hyperphenylalaninemia D | A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22. |
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. |
