Preferred Name |
Hartnup disease |
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Synonyms |
neutral 1 amino acid transport defect aminoaciduria, Hartnup type neutral amino acid transport defect Hartnup disease Hartnup disorder deficiency of tryptophan oxygenase HND |
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Definitions |
Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). |
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ID |
http://purl.obolibrary.org/obo/MONDO_0009324 |
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closeMatch | ||
database_cross_reference |
GARD:0006569 NCIT:C84748 ICD10:E72.0 Orphanet:2116 MESH:D006250 ICD10:E72.02 MedDRA:10019165 UMLS:C0018609 DOID:1060 OMIM:234500 SCTID:80902009 |
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disease has basis in disruption of | ||
disease has basis in dysfunction of | ||
disease has feature | ||
exactMatch |
http://identifiers.org/snomedct/80902009 http://identifiers.org/omim/234500 http://linkedlifedata.com/resource/umls/id/C0018609 http://identifiers.org/meddra/10019165 http://purl.obolibrary.org/obo/DOID_1060 http://purl.obolibrary.org/obo/NCIT_C84748 |
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has exact synonym |
neutral 1 amino acid transport defect aminoaciduria, Hartnup type neutral amino acid transport defect Hartnup disease Hartnup disorder deficiency of tryptophan oxygenase |
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has related synonym |
HND |
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id |
MONDO:0009324 |
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imported from | ||
in_subset | ||
label |
Hartnup disease |
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notation |
MONDO:0009324 |
|
prefLabel |
Hartnup disease |
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see also |
https://rarediseases.info.nih.gov/diseases/6569/hartnup-disease |
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textual definition |
Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). |
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subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015951 http://purl.obolibrary.org/obo/MONDO_0044975 http://purl.obolibrary.org/obo/MONDO_0019058 http://purl.obolibrary.org/obo/MONDO_0017687 http://purl.obolibrary.org/obo/MONDO_0019213 http://purl.obolibrary.org/obo/MONDO_0019304 |