Category:Hartnup disease

An inborn metabolic brain disease that is the result of an inherited metabolic disease 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. OMIM mapping confirmed by DO. [SN]. equivalent URI:=http://purl.obolibrary.org/obo/DOID_1060