National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
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Preferred Name

Zellweger Syndrome
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85239
code

C85239
Concept_In_Subset

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

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

NICHD
DEFINITION

A rare group of autosomal recessive inherited disorders characterized by the reduction or absence of peroxisomes in the tissues. Signs and symptoms include increased levels of iron and copper in the blood and tissues, hepatomegaly, facial abnormalities, mental retardation, seizures, and hypotonia.
Has_NICHD_Parent

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3101
label

Zellweger Syndrome
NICHD_Hierarchy_Term

Zellweger Syndrome
Preferred_Name

Zellweger Syndrome
prefixIRI

C85239
prefLabel

Zellweger Syndrome
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0043459
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61253

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/E71.510 International Classification of Diseases, Version 10 - Clinical Modification LOOM
http://purl.bioontology.org/ontology/MESH/D015211 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_905 Human Disease Ontology 123 LOOM