inborn amino acid transport disorder
amino acid transport disorder
Hartnup disease
"An inborn metabolic brain disease that is the result of an inherited metabolic disease 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." [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hartnup]
"Hartnup disease" EXACT [MTHICD9_2006:270.0]
"Neutral 1 amino acid transport defect (disorder)" EXACT [SNOMEDCT_2005_07_31:80902009]
"deficiency of tryptophan oxygenase" EXACT [SNOMEDCT_2005_07_31:124208000]
"neutral amino acid transport defect" EXACT [CSP2005:1849-4235]
MSH2010_2010_02_22:D006250
OMIM2009_05_01:234500
SNOMEDCT_2010_1_31:124208000
SNOMEDCT_2010_1_31:80902009
UMLS_CUI:C0018609
URI: http://www.ebi.ac.uk/cellline#Hartnup_disease
renal minoaciduria
inborn metabolic brain disease