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Human Disease

tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia

Term ID
DOID:0081132
Synonyms
Definition
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. (2)
References
  • GARD:7751
  • ORDO:238583
Ontology
Human Disease   ( DOID:0081132 )
Relationships
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Zebrafish Models