National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Sphingolipidosis

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C117254

code

C117254

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168

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

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

Contributing_Source

CTRP

NICHD

DEFINITION

An inherited metabolic disorder that affects the metabolism of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.

Display_Name

Sphingolipidosis

Has_NICHD_Parent

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3235

label

Sphingolipidosis

NICHD_Hierarchy_Term

Sphingolipidosis

Preferred_Name

Sphingolipidosis

prefixIRI

C117254

prefLabel

Sphingolipidosis

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0037899

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97092

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http://purl.obolibrary.org/obo/DOID_1927 Human Disease Ontology 123 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/5C56.0 International Classification of Diseases, 11th Edition, China LOOM