Human genes for familial hypertryptophanemia
Familial hypertryptophanemia [DOID:0111703]
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.
Synonyms: familial hypertryptophanemia, DOID:0111703, hereditary hypertryptophanemia, familial hypertryptophanemias, HYPTRP ...