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

Echinobase Genes :


OMIM:
OMIM:234500 - hartnup disorder; hnd

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

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