familial hypertryptophanemia

Term ID

DOID:0111703

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. (2)

References

• GARD:2871
• MESH:C563467
• MIM:600627
• ORDO:2224
• SNOMEDCT_US_2023_03_01:721838005
• UMLS_CUI:C2931837

Ontology

Human Disease   ( DOID:0111703 )