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Summary Literature (0)
DOID:1060 - Hartnup disease

Disease Ontology Definition:An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.

Synonyms: deficiency of tryptophan oxygenase, Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect (disorder), neutral amino acid transport defect

Xenbase Genes : slc6a19

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009324 - Hartnup disease

MIM:
MIM:234500 - HARTNUP DISORDER; HND

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)