Hartnup disease

created [InstanceEdit:5659745] Jassal, Bijay, 2014-12-23
databaseName DOID
dbId 5659739
definition An amino acid metabolic disorder that iis 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.
displayName Hartnup disease
identifier 1060
name
  • Hartnup disease
referenceDatabase [ReferenceDatabase:1247631] DOID
schemaClass Disease
synonym
  • neutral amino acid transport defect
  • Neutral 1 amino acid transport defect (disorder)
  • deficiency of tryptophan oxygenase
url https://www.ebi.ac.uk/ols/ontologies/doid/terms?obo_id=DOID:1060
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