FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

Hartnup disease
Synonyms
Definitions

An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.
ID

http://purl.obolibrary.org/obo/DOID_1060
definition

An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.
imported from

http://purl.obolibrary.org/obo/doid.owl
label

Hartnup disease
prefixIRI

DOID:1060
prefLabel

Hartnup disease
subClassOf

http://purl.obolibrary.org/obo/DOID_9252
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http://purl.obolibrary.org/obo/DOID_1060 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_1060 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_1060 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_1060 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_1060 NIFSTD 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.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/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