Term Name: | familial hypertryptophanemia |
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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 ) |