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Metadata
ID	DOID:0111703
Name	familial hypertryptophanemia
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. https://www.ncbi.nlm.nih.gov/pubmed/28285122, https://www.ncbi.nlm.nih.gov/pubmed/7628119
Xrefs	GARD:2871 MESH:C563467 OMIM:600627 ORDO:2224 SNOMEDCT_US_2023_03_01:721838005 UMLS_CUI:C2931837
Subsets	DO_rare_slim
Synonyms	HYPTRP [EXACT]
Parent Relationships	is_a amino acid metabolic disorder is_a autosomal recessive disease