familial hypertryptophanemia (DOID:0111703)
Alliance: disease page
Synonyms: HYPTRP
Alt IDs: OMIM:600627, MESH:C563467, ORDO:2224, UMLS_CUI:C2931837
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.