WormBase Tree Display for DO_term: DOID:0081131
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DOID:0081131 | Name | BH4-deficient hyperphenylalaninemia D | |||
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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 |