Bh4-Deficient Hyperphenylalaninemia B
Disease ID: disease_node_20526
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| Dbxref | MIM:233910, ORDO:2102 |
|---|---|
| Subclassof | DOID_0050737, DOID_0081132 |
| Data Source | DOID |
| Synonyms | GTP cyclohydrolase 1 deficiency, HPABH4B, tetrahydrobiopterin-deficient hyperphenylalaninemia B |
| Doid Label | BH4-deficient hyperphenylalaninemia B |
| Doid Description | A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in the GCH1 gene on chromosome 14q22.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20526 |
| Doid Id | DOID_0112225 |
| Label | Bh4-Deficient Hyperphenylalaninemia B |
- Outgoing r'ship
SUBCLASS_OFto/from Tetrahydrobiopterin (Bh4)-Deficient Hyperphenylalaninemia(ID:disease_node_20525) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)