loading...| Preferred Name |
obsolete_Hartnup disease |
|
| Synonyms |
Aminoaciduria, Hartnup type Hartnup disorder |
|
| 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://www.orpha.net/ORDO/Orphanet_2116 |
|
| Obsolete |
true |
|
| database_cross_reference |
ICD10:E72.0 MeSH:D006250 OMIM:234500 MedDRA:10019165 UMLS:C0018609 |
|
| 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). |
|
| definition_citation |
orphanet |
|
| deprecated |
true |
|
| has_exact_synonym |
Hartnup disorder Aminoaciduria, Hartnup type |
|
| label |
obsolete_Hartnup disease |
|
| obsoleted_in_version |
3.41.0 |
|
| prefLabel |
obsolete_Hartnup disease |
|
| reason_for_obsolescence |
Replaced with Mondo term. |
|
| term replaced by | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_2116 | ORDO | SAME_URI |