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Disease Ontology Browser
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (DOID:0081132)
Alliance: disease page
Alt IDs: ORDO:238583
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.

Disease References using Mouse Models (3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
05/07/2024
MGI 6.23 		The Jackson Laboratory