Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
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Preferred Name

Hartnup disease
Synonyms

neutral 1 amino acid transport defect

aminoaciduria, Hartnup type

neutral amino acid transport defect

Hartnup disease

Hartnup disorder

deficiency of tryptophan oxygenase

HND
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
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
has_related_synonym

HND
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4985
label

Hartnup disease
prefixIRI

MONDO:0009324
prefLabel

Hartnup disease
seeAlso

https://rarediseases.info.nih.gov/diseases/6569/hartnup-disease
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).
subClassOf

http://purl.obolibrary.org/obo/MONDO_0019216
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http://purl.obolibrary.org/obo/MONDO_0009324 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009324 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009324 KTAO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009324 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009324 EFO LOOM
http://nanbyodata.jp/ontology/NANDO_2200487 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_1060 DOID LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1060 NATPRO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0018609 OCHV LOOM
http://purl.bioontology.org/ontology/MESH/D006250 MESH LOOM
http://purl.bioontology.org/ontology/CSP/1849-4235 CRISP LOOM
http://purl.obolibrary.org/obo/MONDO_0009324 KTAO LOOM
http://purl.jp/bio/4/id/200906092107936279 IOBC LOOM
http://id.nlm.nih.gov/mesh/D006250 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.151.355 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/C300400 RCTV2 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hartnup_Disease CSEO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#5805 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.861.885.457 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.355 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038498 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.355 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_1060 CLO LOOM
http://purl.obolibrary.org/obo/DOID_1060 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1060 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1060 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1060 FNS-H LOOM
http://purl.obolibrary.org/obo/NCIT_C84748 BERO LOOM
http://purl.obolibrary.org/obo/DERMO_0000541 DERMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.355 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84748 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C12.777.419.815.885.457 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.151.355 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14436 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.355 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C13.351.968.419.815.885.625 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10019165 MEDDRA LOOM
http://www.orpha.net/ORDO/Orphanet_2116 ORDO LOOM
http://purl.obolibrary.org/obo/OMIT_0007423 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D006250 RH-MESH LOOM