National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Sialic Acid Storage Disease
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85067
code	C85067
DEFINITION	A rare, autosomal recessive lysosomal storage disease caused by mutations in the SLC17A5 gene. It primarily affects the nervous system. Signs and symptoms include developmental delay, intellectual disability, hypotonia, failure to thrive, seizures, and ataxia.
FULL_SYN	Salla Disease
label	Sialic Acid Storage Disease
Preferred_Name	Sialic Acid Storage Disease
prefixIRI	C85067
prefLabel	Sialic Acid Storage Disease
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0342853
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61250

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/D029461	Medical Subject Headings	LOOM