National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
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Preferred Name

Fucosidosis
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61274
code

C61274
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 autosomal recessive lysosomal storage disease characterized by a defective alpha-L-fucosidase. It results in accumulation of fucose in the tissues. Signs and symptoms include psychomotor retardation, dysostosis multiplex, and neural disturbances.
Display_Name

Fucosidosis
Has_NICHD_Parent

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

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61250
label

Fucosidosis
Legacy_Concept_Name

Fucosidosis
NICHD_Hierarchy_Term

Fucosidosis
Preferred_Name

Fucosidosis
prefixIRI

C61274
prefLabel

Fucosidosis
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0016788
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61250
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_14500 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/D005645 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/OMIM/230000 Online Mendelian Inheritance in Man LOOM