Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
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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Delete Mapping To Ontology Source
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 DOVES 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 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