loading...| Preferred Name |
Hartnup disease |
| Synonyms |
deficiency of tryptophan oxygenase HND Hartnup disorder neutral 1 amino acid transport defect aminoaciduria, Hartnup type neutral amino acid transport defect Hartnup disease |
| 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). |
| ID |
http://purl.obolibrary.org/obo/MONDO_0009324 |
| closeMatch | |
| database_cross_reference |
SCTID:80902009 Orphanet:2116 OMIM:234500 UMLS:C0018609 MESH:D006250 MedDRA:10019165 GARD:0006569 DOID:1060 NCIT:C84748 |
| 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). |
| exactMatch |
http://purl.obolibrary.org/obo/DOID_1060 http://purl.obolibrary.org/obo/Orphanet_2116 http://identifiers.org/mesh/D006250 http://linkedlifedata.com/resource/umls/id/C0018609 |
| has_exact_synonym |
deficiency of tryptophan oxygenase Hartnup disorder neutral 1 amino acid transport defect aminoaciduria, Hartnup type neutral amino acid transport defect Hartnup disease |
| has_related_synonym |
HND |
| IAO_0000233 | |
| id |
MONDO:0009324 |
| in_subset | |
| label |
Hartnup disease |
| notation |
MONDO:0009324 |
| prefLabel |
Hartnup disease |
| seeAlso |
https://rarediseases.info.nih.gov/diseases/6569/hartnup-disease |
| treeView | |
| excluded subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015951 http://purl.obolibrary.org/obo/MONDO_0004736 http://purl.obolibrary.org/obo/MONDO_0019743 |
| subClassOf |