Bh4-Deficient Hyperphenylalaninemia D
Disease ID: disease_node_20527
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| Dbxref | GARD:2843, MIM:264070, ORDO:1578 |
|---|---|
| Subclassof | DOID_0050737, DOID_0081132 |
| Data Source | DOID |
| Synonyms | tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency |
| Doid Label | BH4-deficient hyperphenylalaninemia D |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20527 |
| Doid Id | DOID_0081131 |
| Label | Bh4-Deficient Hyperphenylalaninemia D |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Tetrahydrobiopterin (Bh4)-Deficient Hyperphenylalaninemia(ID:disease_node_20525) (Disease)