Search Ontology:
Human Disease

familial hypertryptophanemia

Term ID
DOID:0111703
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 the TDO2 gene on chromosome 4q32.1. (2)
References
Ontology
Human Disease   ( DOID:0111703 )
Relationships
is a type of
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Genes Involved
Zebrafish Models