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Summary Literature (0)
DOID:0111703 - familial hypertryptophanemia

Disease Ontology 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.

Synonyms: HYPTRP

Xenbase Genes : tdo2


MIM:
MIM:600627 - HYPERTRYPTOPHANEMIA; HYPTRP

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): amino acid metabolic disorder (is_a), autosomal recessive disease (is_a)