Disease ID: MESH:C562656
Disease Name: Hyperphenylalaninemia, BH4-Deficient, B
Synonyms: Gtp Cyclohydrolase I Deficiency | Gtp Cyclohydrolase I Deficiency Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive, Included | Hpabh4b | Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase I Deficiency
Category: Genetic disease (inborn), Metabolic disease, Nervous system disease