OBO ID: DOID:0111703
Term Name: familial hypertryptophanemia Search Ontology:
Synonyms:
  • HYPTRP
Definition: An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in TDO2 on chromosome 4q32.1. (2)
References:
Ontology: Human Disease   (DOID:0111703)
OTHER familial hypertryptophanemia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TDO2 [?Hypertryptophanemia] 600627
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None