Term Name: | Hartnup disease |
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Synonyms: | deficiency of tryptophan oxygenase, Neutral 1 amino acid transport defect, neutral amino acid transport defect |
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. |
Ontology: | Human Disease [DOID:1060] ( DOID:1060 ) |