National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
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Preferred Name

Leukodystrophy
ID

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

C61253
DEFINITION

A group of rare genetic neurodegenerative disorders that affect infants and children. These disorders are characterized by metabolic abnormalities in the development of the myelin sheaths in the white matter. Clinical signs and symptoms include developmental delays, mental retardation, dementia, seizures, loss of motor skills, and muscle weakness. Representative examples include metachromatic leukodystrophy, Krabbe disease, Canavan disease, and Alexander disease.
label

Leukodystrophy
Legacy_Concept_Name

Leukodystrophy
Preferred_Name

Leukodystrophy
prefixIRI

C61253
prefLabel

Leukodystrophy
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0023520
subClassOf

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

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27588
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_10579 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU037739 Online Mendelian Inheritance in Man LOOM