WormBase Tree Display for DO_term: DOID:0081131
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| DOID:0081131 | Name | BH4-deficient hyperphenylalaninemia D | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | 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. | ||||
| Synonym | Exact | tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency | |||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0081132 | |||||
| DB_info | Database | OMIM | disease | 264070 | |
| Attribute_of | Gene_by_orthology | WBGene00020397 |
