OBO ID: DOID:0081132 |
Term Name: | tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia | Search Ontology: | |
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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) | ||
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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
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