OBO ID: DOID:0112225
Term Name: BH4-deficient hyperphenylalaninemia B Search Ontology:
Synonyms:
  • GTP cyclohydrolase 1 deficiency
  • HPABH4B
  • tetrahydrobiopterin-deficient hyperphenylalaninemia B
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. https://pubmed.ncbi.nlm.nih.gov/7869202/
References:
Ontology: Human Disease   (DOID:0112225)
Relationships
is a type of:
OTHER BH4-deficient hyperphenylalaninemia B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GCH1 Hyperphenylalaninemia, BH4-deficient, B 233910
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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