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 )

Relationships
is a type of: amino acid metabolic disorder autosomal recessive disease