| Term Name: | familial hypertryptophanemia |
|---|---|
| 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. |
| Ontology: | Human Disease [DOID:0111703] ( DOID:0111703 ) |