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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 (disorder), neutral amino acid transport defect, Neutral 1 amino acid transport defect
Echinobase Genes
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| 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)