National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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Preferred Name

Hartnup Disease
Synonyms

Hartnup Disease
Definitions

An autosomal recessive inherited metabolic disorder caused by mutations in the SLC6A19 gene. It is characterized by defective absorption of neutral amino acids. Signs and symptoms include skin eruptions reminiscent of pellagra, aminoaciduria, and cerebellar ataxia.
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84748
code

C84748
Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147
Contributing_Source

Cellosaurus

NICHD
DEFINITION

An autosomal recessive inherited metabolic disorder caused by mutations in the SLC6A19 gene. It is characterized by defective absorption of neutral amino acids. Signs and symptoms include skin eruptions reminiscent of pellagra, aminoaciduria, and cerebellar ataxia.
FULL_SYN

Hartnup Disease
label

Hartnup Disease
Preferred_Name

Hartnup Disease
prefixIRI

Thesaurus:C84748
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0018609
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543
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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.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://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