| Metadata | |
|---|---|
| ID | DOID:1060 |
| Name | Hartnup disease |
| 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 |
| Xrefs |
SNOMEDCT_US_2023_03_01:80902009 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
deficiency of tryptophan oxygenase [EXACT] Neutral 1 amino acid transport defect [EXACT] neutral amino acid transport defect [EXACT] |
| Parent Relationships |