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Disease Ontology Browser
Hartnup disease (DOID:1060)
Synonyms: deficiency of tryptophan oxygenase; Neutral 1 amino acid transport defect (disorder); neutral amino acid transport defect
Alt IDs: OMIM:234500, ICD10CM:E72.02, MESH:D006250, NCI:C84748, UMLS_CUI:C0018609
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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/12/2017
MGI 6.10
The Jackson Laboratory