Preferred Name |
Hartnup disease |
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Synonyms |
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Definitions |
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. |
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ID |
http://purl.obolibrary.org/obo/DOID_1060 |
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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. |
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imported from | ||
label |
Hartnup disease |
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prefixIRI |
DOID:1060 |
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prefLabel |
Hartnup disease |
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subClassOf |
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