Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024

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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
closeMatch	http://identifiers.org/snomedct/124208000
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
disease has basis in disruption of	http://purl.obolibrary.org/obo/GO_0015171
disease has basis in dysfunction of	http://identifiers.org/hgnc/27960
disease has feature	http://purl.obolibrary.org/obo/HP_0003355
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 http://www.orpha.net/ORDO/Orphanet_2116 http://identifiers.org/mesh/D006250
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
id	MONDO:0009324
imported from	http://purl.obolibrary.org/obo/mondo.owl
in_subset	http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_disease http://purl.oboInOwllibrary.org/oboInOwl/mondo#gard_rare
label	Hartnup disease
notation	MONDO:0009324
prefLabel	Hartnup disease
see also	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_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 http://purl.obolibrary.org/obo/MONDO_0019743 http://purl.obolibrary.org/obo/MONDO_0004736

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0009324	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009324	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009324	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009324	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009324	MONDO	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	DOVES	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