National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Sanfilippo Syndrome
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61262
code	C61262
DEFINITION	A rare autosomal recessive lysosomal storage disease affecting the metabolism of mucopolysaccharides. Signs and symptoms include behavioral changes, sleep disorders, mental developmental delays, and seizures.
FULL_SYN	Mucopolysaccharidosis Type III
label	Sanfilippo Syndrome
Legacy_Concept_Name	Sanfilippo_Syndrome
Preferred_Name	Sanfilippo Syndrome
prefixIRI	C61262
prefLabel	Sanfilippo Syndrome
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0026706
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193

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