Search Ontology:
Human Disease

Hartnup disease

Term ID
DOID:1060
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. http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hartnup
References
  • GARD:6569
  • ICD10CM:E72.02
  • MESH:D006250
  • MIM:234500
  • NCI:C84748
  • SNOMEDCT_US_2023_03_01:80902009
  • UMLS_CUI:C0018609
Ontology
Human Disease   ( DOID:1060 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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