FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term BH4-deficient hyperphenylalaninemia B ID (Ontology) DOID:0112225 (Human Disease)
Definition A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in the GCH1 gene on chromosome 14q22.2.
Also Known As "GTP cyclohydrolase 1 deficiency" ; "HPABH4B" ; "tetrahydrobiopterin-deficient hyperphenylalaninemia B"
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 Genes
 BH4-deficient hyperphenylalaninemia B       1
 for disease ribbon | BH4-deficient hyperphenylalaninemia B       1
 model of | BH4-deficient hyperphenylalaninemia B       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease________________________________
amino acid metabolic disorder                                  |
 |__tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia__|
                                                               BH4-deficient hyperphenylalaninemia B  1 rec.
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Is a autosomal recessive disease
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia
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Synonyms
  • "GTP cyclohydrolase 1 deficiency" EXACT
    "HPABH4B" EXACT OMO:0003012
    "tetrahydrobiopterin-deficient hyperphenylalaninemia B" EXACT
Secondary IDs
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MIM:233910
ORDO:2102