National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
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Preferred Name

Mucopolysaccharidosis Type IIIA
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84897
code

C84897
DEFINITION

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures.
FULL_SYN

Sanfilippo A

MPS III A
label

Mucopolysaccharidosis Type IIIA
Preferred_Name

Mucopolysaccharidosis Type IIIA
prefixIRI

C84897
prefLabel

Mucopolysaccharidosis Type IIIA
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0086647
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61262
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/252900 Online Mendelian Inheritance in Man LOOM
http://purl.obolibrary.org/obo/DOID_0111395 Human Disease Ontology 123 LOOM