OBO ID: DOID:0081132
Term Name: tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia Search Ontology:
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 )
OTHER tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None