National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Mucopolysaccharidosis Type IIID
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84900
code	C84900
DEFINITION	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays.
FULL_SYN	Sanfilippo D MPS III D
label	Mucopolysaccharidosis Type IIID
Preferred_Name	Mucopolysaccharidosis Type IIID
prefixIRI	C84900
prefLabel	Mucopolysaccharidosis Type IIID
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0086650
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61262

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/252940	Online Mendelian Inheritance in Man	LOOM
	http://purl.obolibrary.org/obo/DOID_0111402	Human Disease Ontology 123	LOOM