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Disease Ontology Browser
Hartnup disease (DOID:1060)
Alliance: disease page
Synonyms: deficiency of tryptophan oxygenase; Neutral 1 amino acid transport defect; 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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory