inborn amino acid transport disorder amino acid transport disorder Hartnup disease MSH2010_2010_02_22:D006250 "Hartnup disease" EXACT [MTHICD9_2006:270.0] OMIM2009_05_01:234500 "deficiency of tryptophan oxygenase" EXACT [SNOMEDCT_2005_07_31:124208000] "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] URI: http://www.ebi.ac.uk/cellline#Hartnup_disease SNOMEDCT_2010_1_31:80902009 UMLS_CUI:C0018609 SNOMEDCT_2010_1_31:124208000 "neutral amino acid transport defect" EXACT [CSP2005:1849-4235] "Neutral 1 amino acid transport defect (disorder)" EXACT [SNOMEDCT_2005_07_31:80902009] renal minoaciduria inborn metabolic brain disease