Tetrahydrobiopterin (Bh4)-Deficient Hyperphenylalaninemia
Disease ID: disease_node_20525
Connections displayed (default: 10).
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| Dbxref | GARD:7751, ORDO:238583 |
|---|---|
| Subclassof | DOID_9252 |
| Data Source | DOID |
| Doid Label | tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia |
| Doid Description | An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. |
| Disease Node Id | disease_node_20525 |
| Doid Id | DOID_0081132 |
| Label | Tetrahydrobiopterin (Bh4)-Deficient Hyperphenylalaninemia |
- Outgoing r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Bh4-Deficient Hyperphenylalaninemia C(ID:disease_node_20528) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Bh4-Deficient Hyperphenylalaninemia B(ID:disease_node_20526) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Bh4-Deficient Hyperphenylalaninemia D(ID:disease_node_20527) (Disease)