loading...| Preferred Name |
Hartnup disease |
|
| Synonyms |
"Hartnup disease" EXACT [MTHICD9_2006:270.0] "Neutral 1 amino acid transport defect (disorder)" EXACT [SNOMEDCT_2005_07_31:80902009] "neutral amino acid transport defect" EXACT [CSP2005:1849-4235] "deficiency of tryptophan oxygenase" EXACT [SNOMEDCT_2005_07_31:124208000] |
|
| Definitions |
"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] |
|
| ID |
http://purl.obolibrary.org/obo/DOID_1060 |
|
| comment |
"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] |
|
| alternative term |
"Hartnup disease" EXACT [MTHICD9_2006:270.0] "Neutral 1 amino acid transport defect (disorder)" EXACT [SNOMEDCT_2005_07_31:80902009] "neutral amino acid transport defect" EXACT [CSP2005:1849-4235] "deficiency of tryptophan oxygenase" EXACT [SNOMEDCT_2005_07_31:124208000] |
|
| label |
Hartnup disease |
|
| prefixIRI |
DOID:1060 |
|
| prefLabel |
Hartnup disease |
|
| see also |
SNOMEDCT_2010_1_31:80902009 UMLS_CUI:C0018609 OMIM2009_05_01:234500 URI: http://www.ebi.ac.uk/cellline#Hartnup_disease SNOMEDCT_2010_1_31:124208000 MSH2010_2010_02_22:D006250 |
|
| subClassOf |
http://purl.obolibrary.org/obo/DOID_1057 http://purl.obolibrary.org/obo/DOID_1061 |
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